bigbio/tmvar_v2 · Datasets at Hugging Face

id stringlengths 1 4	document_id stringlengths 8 8	passages list	entities list	events list	coreferences list	relations list
0	22051099	[ { "id": "6", "type": "title", "text": [ "Variation in the CXCR1 gene (IL8RA) is not associated with susceptibility to chronic periodontitis." ], "offsets": [ [ 0, 99 ] ] }, { "id": "7", "type": "abstract", "text": [ "BACKGROUND: The che...	[ { "id": "1", "type": "SNP", "text": [ "rs2234671" ], "offsets": [ [ 327, 336 ] ], "normalized": [] }, { "id": "2", "type": "DNAMutation", "text": [ "Ex2+860G>C" ], "offsets": [ [ 349, 359 ] ],...	[]	[]	[]
8	22188495	[ { "id": "12", "type": "title", "text": [ "A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology." ], "offsets": [ [ 0, 100 ] ] }, { "id": "13", "type": "abstract", "text": [ "Werner syndrome...	[ { "id": "9", "type": "DNAMutation", "text": [ "3190C>T" ], "offsets": [ [ 1031, 1038 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "747319628" } ] }, { "id": "10", "type": "ProteinMutation", "text": [...	[]	[]	[]
14	20846357	[ { "id": "16", "type": "title", "text": [ "A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome." ], "offsets": [ [ 0, 147 ] ] }, { "id": "17", "type": "...	[ { "id": "15", "type": "ProteinMutation", "text": [ "p.Asp50Asn" ], "offsets": [ [ 374, 384 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28931594" } ] } ]	[]	[]	[]
18	21099701	[ { "id": "22", "type": "title", "text": [ "Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)." ], "offsets": [ [ 0, 92 ] ] }, { "id": "23", "type": "abstract", "text": [ "BACKGROUND: Pycnodysosto...	[ { "id": "19", "type": "DNAMutation", "text": [ "c.908G>A" ], "offsets": [ [ 741, 749 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "756250449" } ] }, { "id": "20", "type": "ProteinMutation", "text": [...	[]	[]	[]
24	20801104	[ { "id": "29", "type": "title", "text": [ "Association study of polymorphisms in the promoter region of DRD4 with schizophrenia, depression, and heroin addiction." ], "offsets": [ [ 0, 119 ] ] }, { "id": "30", "type": "abstract", "text": [ ...	[ { "id": "25", "type": "DNAMutation", "text": [ "-616C/G" ], "offsets": [ [ 600, 607 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "747302" } ] }, { "id": "26", "type": "DNAMutation", "text": [ "...	[]	[]	[]
31	21070631	[ { "id": "35", "type": "title", "text": [ "The dopamine b-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project." ], "offsets": [ [ 0, 125 ] ] }, { "id": "36", "type": "abstract", "text":...	[ { "id": "32", "type": "DNAMutation", "text": [ "-1021C/T" ], "offsets": [ [ 27, 35 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1611115" } ] }, { "id": "33", "type": "SNP", "text": [ "rs161111...	[]	[]	[]
37	21405999	[ { "id": "43", "type": "title", "text": [ "Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy." ], "offsets": [ [ 0, 102 ] ] }, { "id": "44", "type": "abstract", "text": [ "Background: H...	[ { "id": "38", "type": "DNAMutation", "text": [ "c.-17T>C" ], "offsets": [ [ 1077, 1085 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1474867" } ] }, { "id": "39", "type": "DNAMutation", "text": [ ...	[]	[]	[]
45	20709368	[ { "id": "50", "type": "title", "text": [ "The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease." ], "offsets": [ [ 0, 94 ] ] }, { "id": "51", "type": "abstract", "text": [ "Conversion of fibrinog...	[ { "id": "46", "type": "DNAMutation", "text": [ "10034C>T" ], "offsets": [ [ 21, 29 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2066865" } ] }, { "id": "47", "type": "DNAMutation", "text": [ "...	[]	[]	[]
52	20512659	[ { "id": "54", "type": "title", "text": [ "Mutation and association analysis of GEN1 in breast cancer susceptibility." ], "offsets": [ [ 0, 74 ] ] }, { "id": "55", "type": "abstract", "text": [ "GEN1 was recently identified as a key Holl...	[ { "id": "53", "type": "DNAMutation", "text": [ "c.2515_2519delAAGTT" ], "offsets": [ [ 722, 741 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "149936944" } ] } ]	[]	[]	[]
56	20331852	[ { "id": "60", "type": "title", "text": [ "Mutation analysis of the LCE3B/LCE3C genes in Psoriasis." ], "offsets": [ [ 0, 56 ] ] }, { "id": "61", "type": "abstract", "text": [ "BACKGROUND: An association between a common deletion compris...	[ { "id": "57", "type": "SNP", "text": [ "rs4112788" ], "offsets": [ [ 686, 695 ] ], "normalized": [] }, { "id": "58", "type": "SNP", "text": [ "rs4112788" ], "offsets": [ [ 989, 998 ] ], "n...	[]	[]	[]
62	19881468	[ { "id": "68", "type": "title", "text": [ "hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type." ], "offsets": [ [ 0, 74 ] ] }, { "id": "69", "type": "abstract", "text": [ "Human 8-oxoguanine DNA glycosylase 1 (hOGG...	[ { "id": "63", "type": "ProteinMutation", "text": [ "Ser326Cys" ], "offsets": [ [ 6, 15 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1052133" } ] }, { "id": "64", "type": "SNP", "text": [ "rs10...	[]	[]	[]
70	19429592	[ { "id": "75", "type": "title", "text": [ "RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population." ], "offsets": [ [ 0, 97 ] ] }, { "id": "76", "type": "abstract", "text": [ "BACKGROUND: Mutatio...	[ { "id": "71", "type": "DNAMutation", "text": [ "c.507G>T" ], "offsets": [ [ 854, 862 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "369037463" } ] }, { "id": "72", "type": "ProteinMutation", "text": [...	[]	[]	[]
77	19223935	[ { "id": "79", "type": "title", "text": [ "Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension." ], "offsets": [ [ 0, 109 ] ] }, { "id": "80", "type": "abstract", "text": [ "Pulmon...	[ { "id": "78", "type": "DNAMutation", "text": [ "G-669A" ], "offsets": [ [ 962, 968 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "115604088" } ] } ]	[]	[]	[]
81	19067809	[ { "id": "85", "type": "title", "text": [ "Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system." ], "offsets": [ [ 0, 144 ] ] }, { "id": "86", "type": "abs...	[ { "id": "82", "type": "DNAMutation", "text": [ "A 11666C" ], "offsets": [ [ 722, 730 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5186" } ] }, { "id": "83", "type": "DNAMutation", "text": [ "A...	[]	[]	[]
87	18672102	[ { "id": "94", "type": "title", "text": [ "GATA4 mutations in 486 Chinese patients with congenital heart disease." ], "offsets": [ [ 0, 70 ] ] }, { "id": "95", "type": "abstract", "text": [ "Recent studies have reported germline mutation...	[ { "id": "88", "type": "ProteinMutation", "text": [ "A6V" ], "offsets": [ [ 728, 731 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "199922907" } ] }, { "id": "89", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
96	18492086	[ { "id": "98", "type": "title", "text": [ "Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations." ], "offsets": [ [ 0, 112 ] ] }, { "id": "99", "type": "abstract", "text": [ "Hom...	[ { "id": "97", "type": "DNAMutation", "text": [ "c.2068-4T>A" ], "offsets": [ [ 1088, 1099 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "41291161" } ] } ]	[]	[]	[]
100	18397285	[ { "id": "107", "type": "title", "text": [ "L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease." ], "offsets": [ [ 0, 179 ] ] }, ...	[ { "id": "101", "type": "ProteinMutation", "text": [ "L1503R" ], "offsets": [ [ 0, 6 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "61750097" } ] }, { "id": "102", "type": "DNAMutation", "text": [ ...	[]	[]	[]
109	18189233	[ { "id": "115", "type": "title", "text": [ "RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans." ], "offsets": [ [ 0, 82 ] ] }, { "id": "116", "type": "abstract", "text": [ "BACKGROUND: Afro-Caribbeans from...	[ { "id": "110", "type": "ProteinMutation", "text": [ "R462Q" ], "offsets": [ [ 720, 725 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "486907" } ] }, { "id": "111", "type": "ProteinMutation", "text": [...	[]	[]	[]
117	18166824	[ { "id": "121", "type": "title", "text": [ "Genetic investigation of four meiotic genes in women with premature ovarian failure." ], "offsets": [ [ 0, 84 ] ] }, { "id": "122", "type": "abstract", "text": [ "OBJECTIVE: The goal of this st...	[ { "id": "118", "type": "ProteinMutation", "text": [ "amino acid (proline) with a polar amino acid (serine) at position 29" ], "offsets": [ [ 880, 948 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2075789" } ] }, ...	[]	[]	[]
123	19276632	[ { "id": "130", "type": "title", "text": [ "Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate." ], "offsets": [ [ 0, 112 ] ] }, { "id": "131", "type": "abstract", "text": [ "I...	[ { "id": "124", "type": "DNAMutation", "text": [ "c.262G>A" ], "offsets": [ [ 1234, 1242 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72667003" } ] }, { "id": "125", "type": "ProteinMutation", "text"...	[]	[]	[]
132	17391797	[ { "id": "141", "type": "title", "text": [ "The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population." ], "offsets": [ [ 0, 149 ] ] }, { "id": "142", "type...	[ { "id": "133", "type": "ProteinMutation", "text": [ "V175M" ], "offsets": [ [ 54, 59 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7946" } ] }, { "id": "134", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
143	17059986	[ { "id": "146", "type": "title", "text": [ "A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension." ], "offsets": [ [ 0, 112 ] ] }, { "id": "147", "type": "abstract", "text": [ "W...	[ { "id": "144", "type": "ProteinMutation", "text": [ "serine by leucine at amino acid position 555" ], "offsets": [ [ 708, 752 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "148038173" } ] }, { "id": "145", ...	[]	[]	[]
148	17033974	[ { "id": "150", "type": "title", "text": [ "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy." ], "offsets": [ [ 0, 101 ] ] }, { "id": "151", "type": "abstract", "text": [ "Retinal sign...	[ { "id": "149", "type": "DNAMutation", "text": [ "c.2406C-->A" ], "offsets": [ [ 823, 834 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "71454844" } ] } ]	[]	[]	[]
152	17003357	[ { "id": "156", "type": "title", "text": [ "A haplotype-based analysis of the PTPN22 locus in type 1 diabetes." ], "offsets": [ [ 0, 66 ] ] }, { "id": "157", "type": "abstract", "text": [ "A recent addition to the list of widely confirme...	[ { "id": "153", "type": "DNAMutation", "text": [ "1858C/T" ], "offsets": [ [ 359, 366 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2476601" } ] }, { "id": "154", "type": "DNAMutation", "text": [ ...	[]	[]	[]
158	16644711	[ { "id": "162", "type": "title", "text": [ "A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo." ], "offsets": [ [ 0, 92 ] ] }, { "id": "163", "type": "abstract", "text": [ "Diminished insulin sen...	[ { "id": "159", "type": "ProteinMutation", "text": [ "Tyr1306Cys" ], "offsets": [ [ 13, 23 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "148969251" } ] }, { "id": "160", "type": "ProteinMutation", "te...	[]	[]	[]
164	16543197	[ { "id": "167", "type": "title", "text": [ "A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis." ], "offsets": [ [ 0, 93 ] ] }, { "id": "168", "type": "abstract", "text": [ "PURPOSE: To identify ...	[ { "id": "165", "type": "ProteinMutation", "text": [ "G1103R" ], "offsets": [ [ 2, 8 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "62636275" } ] }, { "id": "166", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
169	16525586	[ { "id": "172", "type": "title", "text": [ "Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach." ], "offsets": [ [ 0, 133 ] ] }, { "id": "173", "type": "abstract", ...	[ { "id": "170", "type": "ProteinMutation", "text": [ "Arg260His" ], "offsets": [ [ 1463, 1472 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121913071" } ] }, { "id": "171", "type": "ProteinMutation", ...	[]	[]	[]
174	16256386	[ { "id": "188", "type": "title", "text": [ "Phenylketonuria mutations in Northern China." ], "offsets": [ [ 0, 44 ] ] }, { "id": "189", "type": "abstract", "text": [ "Mutation spectrum of phenylalanine hydroxylase (PAH) gene in patients ...	[ { "id": "175", "type": "ProteinMutation", "text": [ "R243Q" ], "offsets": [ [ 659, 664 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "62508588" } ] }, { "id": "176", "type": "ProteinMutation", "text":...	[]	[]	[]
190	16252083	[ { "id": "199", "type": "title", "text": [ "Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression." ], "offsets": [ [ 0, 95 ] ] }, { "id": "200", "type": "abstract", "text": [ "The response of the...	[ { "id": "191", "type": "DNAMutation", "text": [ "A --> G transition at 127 position" ], "offsets": [ [ 674, 708 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "780496649" } ] }, { "id": "192", "type": "Pro...	[]	[]	[]
201	16186368	[ { "id": "204", "type": "title", "text": [ "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations." ], "offsets": [ [ 0, 80 ] ] }, { "id": "205", "type": "abstract", "text": [ "PURPOSE: Mutations of the CYP4V2 g...	[ { "id": "202", "type": "ProteinMutation", "text": [ "S482X" ], "offsets": [ [ 874, 879 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "146494374" } ] }, { "id": "203", "type": "ProteinMutation", "text"...	[]	[]	[]
206	16181814	[ { "id": "217", "type": "title", "text": [ "Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome." ], "offsets": [ [ 0, 127 ] ] }, { "id": "218", "type": "abstract", "te...	[ { "id": "207", "type": "ProteinMutation", "text": [ "E873stop" ], "offsets": [ [ 807, 815 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121918047" } ] }, { "id": "208", "type": "ProteinMutation", "te...	[]	[]	[]
219	16088915	[ { "id": "223", "type": "title", "text": [ "Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita." ], "offsets": [ [ 0, 118 ] ] }, { "id": "224", "type": "abstract", "text": [ ...	[ { "id": "220", "type": "ProteinMutation", "text": [ "arginine at amino acid 792 to a codon for glycine" ], "offsets": [ [ 713, 762 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121912895" } ] }, { "id": "221...	[]	[]	[]
225	16051693	[ { "id": "230", "type": "title", "text": [ "Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)." ], "offsets": [ [ 0, 93 ] ] }, { "id": "231", "type": "abstract", "text": [ "Phosphatidylethanolam...	[ { "id": "226", "type": "ProteinMutation", "text": [ "V175M" ], "offsets": [ [ 517, 522 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7946" } ] }, { "id": "227", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
232	15880727	[ { "id": "243", "type": "title", "text": [ "The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe." ], "offsets": [ [ 0, 117 ] ] }, { "id": "244", "type": "abstract", "text": [ ...	[ { "id": "233", "type": "ProteinMutation", "text": [ "p.A150P" ], "offsets": [ [ 679, 686 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1800546" } ] }, { "id": "234", "type": "ProteinMutation", "text"...	[]	[]	[]
245	15770495	[ { "id": "259", "type": "title", "text": [ "New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2." ], "offsets": [ [ 0, 115 ] ] }, { "id": "260", "type": "abstract", "text": [ ...	[ { "id": "246", "type": "ProteinMutation", "text": [ "G183S" ], "offsets": [ [ 686, 691 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121434247" } ] }, { "id": "247", "type": "ProteinMutation", "text"...	[]	[]	[]
261	15754732	[ { "id": "264", "type": "title", "text": [ "Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics." ], "offsets": [ [ 0, 122 ] ] }, { "id": "265", "type": "abstract", "text": ...	[ { "id": "262", "type": "ProteinMutation", "text": [ "R171Q" ], "offsets": [ [ 1398, 1403 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "607969" } ] }, { "id": "263", "type": "ProteinMutation", "text":...	[]	[]	[]
266	15749661	[ { "id": "279", "type": "title", "text": [ "Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis." ], "offsets": [ [ 0, 115 ] ] }, { "id": "280", "type": "abstract", "text": [ ...	[ { "id": "267", "type": "ProteinMutation", "text": [ "L490R" ], "offsets": [ [ 21, 26 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "80338886" } ] }, { "id": "268", "type": "ProteinMutation", "text": [...	[]	[]	[]
281	15668505	[ { "id": "287", "type": "title", "text": [ "Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers." ], "offsets": [ [ 0, 100 ] ] }, { "id": "288", "type": "abstract", "text": [ "The HH genoty...	[ { "id": "282", "type": "ProteinMutation", "text": [ "N372H" ], "offsets": [ [ 177, 182 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "144848" } ] }, { "id": "283", "type": "ProteinMutation", "text": [...	[]	[]	[]
289	15636431	[ { "id": "291", "type": "title", "text": [ "Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms." ], "offsets": [ [ 0, 92 ] ] }, { "id": "292", "type": "abstract", "text": [ "The KAL1 gene has a cl...	[ { "id": "290", "type": "DNAMutation", "text": [ "T to C substitution at position 1833" ], "offsets": [ [ 256, 292 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "809446" } ] } ]	[]	[]	[]
293	15485686	[ { "id": "296", "type": "title", "text": [ "A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia." ], "offsets": [ [ 0, 121 ] ] }, { "id": "297", "type": "abstract", "text": [...	[ { "id": "294", "type": "DNAMutation", "text": [ "G-->A substitution at codon 1763" ], "offsets": [ [ 807, 839 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "199473631" } ] }, { "id": "295", "type": "Prote...	[]	[]	[]
298	15304120	[ { "id": "311", "type": "title", "text": [ "Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects." ], "offsets": [ [ 0, 196 ...	[ { "id": "299", "type": "ProteinMutation", "text": [ "P364L" ], "offsets": [ [ 1126, 1131 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "34946978" } ] }, { "id": "300", "type": "DNAMutation", "text": [...	[]	[]	[]
313	15200509	[ { "id": "315", "type": "title", "text": [ "De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome." ], "offsets": [ [ 0, 112 ] ] }, { "id": "316", "type": "abstract", "text": [ "P...	[ { "id": "314", "type": "ProteinMutation", "text": [ "Tyr246X" ], "offsets": [ [ 654, 661 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "137853083" } ] } ]	[]	[]	[]
317	14562027	[ { "id": "322", "type": "title", "text": [ "Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer." ], "offsets": [ [ 0, 87 ] ] }, { "id": "323", "type": "abstract", "text": [ "CYP1B1 has been evaluated a...	[ { "id": "318", "type": "DNAMutation", "text": [ "+142C/G" ], "offsets": [ [ 1061, 1068 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "10012" } ] }, { "id": "319", "type": "DNAMutation", "text": [ ...	[]	[]	[]
324	14508191	[ { "id": "331", "type": "title", "text": [ "Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPER Project." ], "offsets": [ [ 0, 138 ] ] }, { "id": "332", "type": "abstrac...	[ { "id": "325", "type": "DNAMutation", "text": [ "A/C1166" ], "offsets": [ [ 734, 741 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5186" } ] }, { "id": "326", "type": "DNAMutation", "text": [ "...	[]	[]	[]
333	12925671	[ { "id": "335", "type": "title", "text": [ "Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections." ], "offsets": [ [ 0, 144 ] ] }, { "id": "336", "type": "a...	[ { "id": "334", "type": "DNAMutation", "text": [ "C877T in cDNA" ], "offsets": [ [ 919, 932 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121908002" } ] } ]	[]	[]	[]
337	12915397	[ { "id": "340", "type": "title", "text": [ "Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion." ], "offsets": [ [ 0, 86 ] ] }, { "id": "341", "type": "abstract", "text": [ "The onset of type 2 diabetes...	[ { "id": "338", "type": "ProteinMutation", "text": [ "Ala55Val" ], "offsets": [ [ 600, 608 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "660339" } ] }, { "id": "339", "type": "ProteinMutation", "text"...	[]	[]	[]
342	22016685	[ { "id": "349", "type": "title", "text": [ "A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency." ], "offsets": [ [ 0, 126 ] ] }, { "id": "350", "type": "abstract", "tex...	[ { "id": "343", "type": "ProteinMutation", "text": [ "Asp506Gly" ], "offsets": [ [ 26, 35 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "281875258" } ] }, { "id": "344", "type": "DNAMutation", "text": ...	[]	[]	[]
351	21850008	[ { "id": "354", "type": "title", "text": [ "Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes." ], "offsets": [ [ 0, 199...	[ { "id": "352", "type": "DNAMutation", "text": [ "T10191C" ], "offsets": [ [ 909, 916 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "267606890" } ] }, { "id": "353", "type": "ProteinMutation", "text": ...	[]	[]	[]
356	22028770	[ { "id": "367", "type": "title", "text": [ "APOE genotype-function relationship: evidence of -491 A/T promoter polymorphism modifying transcription control but not type 2 diabetes risk." ], "offsets": [ [ 0, 141 ] ] }, { "id": "368", "type": "abst...	[ { "id": "357", "type": "DNAMutation", "text": [ "-491 A/T" ], "offsets": [ [ 49, 57 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "449647" } ] }, { "id": "358", "type": "DNAMutation", "text": [ ...	[]	[]	[]
369	21799811	[ { "id": "375", "type": "title", "text": [ "Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis." ], "offsets": [ [ 0, 136 ] ] }, { "id": "376", "type": "abstract"...	[ { "id": "370", "type": "DNAMutation", "text": [ "677 C>T" ], "offsets": [ [ 22, 29 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801133" } ] }, { "id": "371", "type": "DNAMutation", "text": [ ...	[]	[]	[]
377	20854438	[ { "id": "383", "type": "title", "text": [ "SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda." ], "offsets": [ [ 0, 74 ] ] }, { "id": "384", "type": "abstract", "text": [ "BACKGROUND: Mal de Meleda (MDM) is palmo...	[ { "id": "378", "type": "DNAMutation", "text": [ "G to A substitution in nucleotide 256" ], "offsets": [ [ 1105, 1142 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28937888" } ] }, { "id": "379", "type": ...	[]	[]	[]
385	20887110	[ { "id": "390", "type": "title", "text": [ "Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects." ], "offsets": [ [ 0, 92 ] ] }, { "id": "391", "type": "abstract", "text": [ "OBJECT: Neural tube de...	[ { "id": "386", "type": "DNAMutation", "text": [ "C-->T transition at nucleotide 677" ], "offsets": [ [ 471, 505 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801133" } ] }, { "id": "387", "type": "DNAMu...	[]	[]	[]
392	21080147	[ { "id": "396", "type": "title", "text": [ "Novel CRELD1 gene mutations in patients with atrioventricular septal defect." ], "offsets": [ [ 0, 76 ] ] }, { "id": "397", "type": "abstract", "text": [ "BACKGROUND: Atrioventricular septal de...	[ { "id": "393", "type": "DNAMutation", "text": [ "c.973G>A" ], "offsets": [ [ 1203, 1211 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "755981922" } ] }, { "id": "394", "type": "ProteinMutation", "text...	[]	[]	[]
398	20708777	[ { "id": "409", "type": "title", "text": [ "Association of DNA polymorphisms within the CYP11B2/CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone-producing adenomas." ], "offsets": [ [ 0, 154 ] ] }, { "id": "410", ...	[ { "id": "399", "type": "SNP", "text": [ "rs1799998" ], "offsets": [ [ 791, 800 ] ], "normalized": [] }, { "id": "400", "type": "DNAMutation", "text": [ "C-344 T" ], "offsets": [ [ 802, 809 ] ]...	[]	[]	[]
411	20949073	[ { "id": "414", "type": "title", "text": [ "Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier." ], "offsets": [ [ 0, 77 ] ] }, { "id": "415", "type": "abstract", "text": [ "Approximately 30% of alleles causing ...	[ { "id": "412", "type": "ProteinMutation", "text": [ "E831X" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "397508387" } ] }, { "id": "413", "type": "DNAMutation", "text": [ ...	[]	[]	[]
416	20529581	[ { "id": "420", "type": "title", "text": [ "A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient." ], "offsets": [ [ 0, 90 ] ] }, { "id": "421", "type": "abstract", "text": [ "BACKGROUND: Leukocyte ad...	[ { "id": "417", "type": "DNAMutation", "text": [ "c.899A > T" ], "offsets": [ [ 1150, 1160 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "179363874" } ] }, { "id": "418", "type": "ProteinMutation", "te...	[]	[]	[]
422	20005218	[ { "id": "431", "type": "title", "text": [ "A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population." ], "offsets": [ [ 0, 165 ] ] }, { "id": ...	[ { "id": "423", "type": "DNAMutation", "text": [ "G-395A" ], "offsets": [ [ 302, 308 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1207568" } ] }, { "id": "424", "type": "DNAMutation", "text": [ ...	[]	[]	[]
433	19444361	[ { "id": "438", "type": "title", "text": [ "COL3A1 2209G>A is a predictor of pelvic organ prolapse." ], "offsets": [ [ 0, 55 ] ] }, { "id": "439", "type": "abstract", "text": [ "INTRODUCTION AND HYPOTHESIS: A familial tendency has been d...	[ { "id": "434", "type": "DNAMutation", "text": [ "2209G>A" ], "offsets": [ [ 7, 14 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1800255" } ] }, { "id": "435", "type": "DNAMutation", "text": [ "...	[]	[]	[]
440	19429807	[ { "id": "443", "type": "title", "text": [ "A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease." ], "offsets": [ [ 0, 78 ] ] }, { "id": "444", "type": "abstract", "text": [ "Menkes disease (MD, MIM 309400) is a...	[ { "id": "441", "type": "DNAMutation", "text": [ "c.3943G>A" ], "offsets": [ [ 582, 591 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "797045390" } ] }, { "id": "442", "type": "ProteinMutation", "text"...	[]	[]	[]
445	19298002	[ { "id": "448", "type": "title", "text": [ "Genetic polymorphism in chemokine CCL22 and susceptibility to Helicobacter pylori infection-related gastric carcinoma." ], "offsets": [ [ 0, 118 ] ] }, { "id": "449", "type": "abstract", "text": [ ...	[ { "id": "446", "type": "DNAMutation", "text": [ "16C-->A" ], "offsets": [ [ 956, 963 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4359426" } ] }, { "id": "447", "type": "SNP", "text": [ "refer...	[]	[]	[]
450	19110214	[ { "id": "453", "type": "title", "text": [ "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan." ], "offsets": [ [ 0, 132 ] ] }, { "id": "454", "type": "abstract", ...	[ { "id": "451", "type": "DNAMutation", "text": [ "c.6799G --> A" ], "offsets": [ [ 922, 935 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "545688154" } ] }, { "id": "452", "type": "ProteinMutation", "t...	[]	[]	[]
455	19012332	[ { "id": "457", "type": "title", "text": [ "Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome." ], "offsets": [ [ 0, 71 ] ] }, { "id": "458", "type": "abstract", "text": [ "We present a girl who developed adrenocorti...	[ { "id": "456", "type": "ProteinMutation", "text": [ "Arg282Trp" ], "offsets": [ [ 415, 424 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28934574" } ] } ]	[]	[]	[]
459	18806880	[ { "id": "464", "type": "title", "text": [ "Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation." ], "offsets": [ [ 0, 145 ] ] }, { "id": "465", "type": "...	[ { "id": "460", "type": "DNAMutation", "text": [ "1493A>T" ], "offsets": [ [ 1378, 1385 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "267607431" } ] }, { "id": "461", "type": "ProteinMutation", "text"...	[]	[]	[]
466	18779591	[ { "id": "470", "type": "title", "text": [ "Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors." ], "offsets": [ [ 0, 107 ] ] }, { "id": "471", "type": "abstract", "text": [ "There ...	[ { "id": "467", "type": "ProteinMutation", "text": [ "Ile(146)-->Leu" ], "offsets": [ [ 806, 820 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72478580" } ] }, { "id": "468", "type": "ProteinMutation", ...	[]	[]	[]
472	18270997	[ { "id": "479", "type": "title", "text": [ "Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women." ], "offsets": [ [ 0, 137 ] ] }, { "id": "480", "type": "abstract...	[ { "id": "473", "type": "ProteinMutation", "text": [ "Val158Met" ], "offsets": [ [ 79, 88 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4680" } ] }, { "id": "474", "type": "DNAMutation", "text": [ ...	[]	[]	[]
481	18266724	[ { "id": "484", "type": "title", "text": [ "Histamine-N-methyl transferase polymorphism and risk for migraine." ], "offsets": [ [ 0, 66 ] ] }, { "id": "485", "type": "abstract", "text": [ "BACKGROUND/OBJECTIVES: Histamine has been implic...	[ { "id": "482", "type": "DNAMutation", "text": [ "C314T" ], "offsets": [ [ 387, 392 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "11558538" } ] }, { "id": "483", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
486	17635946	[ { "id": "491", "type": "title", "text": [ "A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance." ], "offsets": [ [ 0, 152 ] ] }, { "id": "492", "t...	[ { "id": "487", "type": "DNAMutation", "text": [ "(T --> C) substitution at position 2209" ], "offsets": [ [ 793, 832 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121909727" } ] }, { "id": "488", "type":...	[]	[]	[]
493	17615540	[ { "id": "498", "type": "title", "text": [ "A novel \"pearl box\" cataract associated with a mutation in the connexin 46 (GJA3) gene." ], "offsets": [ [ 0, 87 ] ] }, { "id": "499", "type": "abstract", "text": [ "PURPOSE: To undertake mut...	[ { "id": "494", "type": "DNAMutation", "text": [ "C260T" ], "offsets": [ [ 743, 748 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "864309687" } ] }, { "id": "495", "type": "DNAMutation", "text": [ ...	[]	[]	[]
500	17595233	[ { "id": "502", "type": "title", "text": [ "Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease." ], "offsets": [ [ 0, 138 ] ] }, { "id": "503", "type": "abstrac...	[ { "id": "501", "type": "ProteinMutation", "text": [ "D299G" ], "offsets": [ [ 2271, 2276 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4986790" } ] } ]	[]	[]	[]
504	17221831	[ { "id": "509", "type": "title", "text": [ "The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients." ], "offsets": [ [ 0, 123 ] ] }, { "id": "510", "type": "abstract", "text":...	[ { "id": "505", "type": "ProteinMutation", "text": [ "G51S" ], "offsets": [ [ 4, 8 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1049564" } ] }, { "id": "506", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
511	17065190	[ { "id": "516", "type": "title", "text": [ "Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians." ], "offsets": [ [ 0, 173 ] ] }, { ...	[ { "id": "512", "type": "SNP", "text": [ "rs2857657" ], "offsets": [ [ 924, 933 ] ], "normalized": [] }, { "id": "513", "type": "SNP", "text": [ "rs4586" ], "offsets": [ [ 949, 955 ] ], "no...	[]	[]	[]
518	16953235	[ { "id": "523", "type": "title", "text": [ "Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation." ], "offsets": [ [ 0, 168 ] ] }, { "id...	[ { "id": "519", "type": "DNAMutation", "text": [ "c.32C>T" ], "offsets": [ [ 482, 489 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5030878" } ] }, { "id": "520", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
525	16911351	[ { "id": "529", "type": "title", "text": [ "Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients." ], "offsets": [ [ 0, 90 ] ] }, { "id": "530", "type": "abstract", "text": [ "OBJECTIVES: Dystonia is ...	[ { "id": "526", "type": "DNAMutation", "text": [ "c.646G > C" ], "offsets": [ [ 872, 882 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801968" } ] }, { "id": "527", "type": "ProteinMutation", "text":...	[]	[]	[]
531	16419642	[ { "id": "543", "type": "title", "text": [ "A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes." ], "offsets": [ [ 0, 141 ] ] }, { "id": "544", "type": "abst...	[ { "id": "532", "type": "ProteinMutation", "text": [ "F826Y" ], "offsets": [ [ 27, 32 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "13306592" } ] }, { "id": "533", "type": "ProteinMutation", "text": [...	[]	[]	[]
545	16288197	[ { "id": "550", "type": "title", "text": [ "Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree." ], "offsets": [ [ 0, 89 ] ] }, { "id": "551", "type": "abstract", "text": [ "PURPOSE: Congenital micro...	[ { "id": "546", "type": "DNAMutation", "text": [ "144 G>A" ], "offsets": [ [ 1433, 1440 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "74315339" } ] }, { "id": "547", "type": "ProteinMutation", "text":...	[]	[]	[]
552	16277682	[ { "id": "560", "type": "title", "text": [ "Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family." ], "offsets": [ [ 0, 138 ] ] }, { "id": "561", "type": "abstrac...	[ { "id": "553", "type": "ProteinMutation", "text": [ "M404V" ], "offsets": [ [ 17, 22 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "771966860" } ] }, { "id": "554", "type": "ProteinMutation", "text": ...	[]	[]	[]
562	16167150	[ { "id": "566", "type": "title", "text": [ "Genetic variation in UCP2 (uncoupling protein-2) is associated with energy metabolism in Pima Indians." ], "offsets": [ [ 0, 102 ] ] }, { "id": "567", "type": "abstract", "text": [ "AIMS/HYPOTH...	[ { "id": "563", "type": "ProteinMutation", "text": [ "Ala55Val" ], "offsets": [ [ 752, 760 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "660339" } ] }, { "id": "564", "type": "ProteinMutation", "text"...	[]	[]	[]
568	16152606	[ { "id": "572", "type": "title", "text": [ "Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies." ], "offsets": [ [ 0, 136 ] ] }, { "id": "573", "type": "abstract"...	[ { "id": "569", "type": "DNAMutation", "text": [ "643C>T" ], "offsets": [ [ 588, 594 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "34767364" } ] }, { "id": "570", "type": "ProteinMutation", "text": [ ...	[]	[]	[]
574	16046395	[ { "id": "579", "type": "title", "text": [ "Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G." ], "offsets": [ [ 0, 89 ] ] }, { "id": "580", "type": "abstract", "text": [ "As a primary target for o...	[ { "id": "575", "type": "DNAMutation", "text": [ "A118G" ], "offsets": [ [ 83, 88 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1799971" } ] }, { "id": "576", "type": "DNAMutation", "text": [ "A...	[]	[]	[]
581	15680411	[ { "id": "586", "type": "title", "text": [ "DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers." ], "offsets": [ [ 0, 108 ] ] }, { "id": "587", "type": "abstract", "text": [ "Polym...	[ { "id": "582", "type": "ProteinMutation", "text": [ "R194W" ], "offsets": [ [ 439, 444 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1799782" } ] }, { "id": "583", "type": "ProteinMutation", "text": ...	[]	[]	[]
588	15609295	[ { "id": "591", "type": "title", "text": [ "Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome." ], "offsets": [ [ 0, 167 ] ] }, { "id"...	[ { "id": "589", "type": "ProteinMutation", "text": [ "Asn45Ser" ], "offsets": [ [ 69, 77 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5030764" } ] }, { "id": "590", "type": "ProteinMutation", "text":...	[]	[]	[]
593	15316799	[ { "id": "595", "type": "title", "text": [ "Genetic variation in apolipoprotein D and Alzheimer's disease." ], "offsets": [ [ 0, 62 ] ] }, { "id": "596", "type": "abstract", "text": [ "Apolipoprotein D (apoD) is a lipoprotein-associated ...	[ { "id": "594", "type": "ProteinMutation", "text": [ "Phe-->Ser at codon 15" ], "offsets": [ [ 515, 536 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5952" } ] } ]	[]	[]	[]
597	15200408	[ { "id": "599", "type": "title", "text": [ "Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity." ], "offsets": [ [ 0, 116 ] ] }, { "id": "600", "type": "abstract", "text": [ ...	[ { "id": "598", "type": "ProteinMutation", "text": [ "Ala7Val" ], "offsets": [ [ 1495, 1502 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "373513519" } ] } ]	[]	[]	[]
601	15198485	[ { "id": "611", "type": "title", "text": [ "Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene." ], "offsets": [ [ 0, 88 ] ] }, { "id": "612", "type": "abstract", "text": [ "Endothelin-1 (ET-1) is a p...	[ { "id": "602", "type": "ProteinMutation", "text": [ "Lys198Asn" ], "offsets": [ [ 18, 27 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5370" } ] }, { "id": "603", "type": "DNAMutation", "text": [ ...	[]	[]	[]
613	15041272	[ { "id": "619", "type": "title", "text": [ "A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation." ], "offsets": [ [ 0, 88 ] ] }, { "id": "620", "type": "abstract", "text": [ "Clinical, laboratory and g...	[ { "id": "614", "type": "ProteinMutation", "text": [ "R1306W" ], "offsets": [ [ 72, 78 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "61749384" } ] }, { "id": "615", "type": "DNAMutation", "text": [ ...	[]	[]	[]
621	15003823	[ { "id": "624", "type": "title", "text": [ "Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations." ], "offsets": [ [ 0, 124 ] ] }, { "id": "625", "type": "abstract", "text"...	[ { "id": "622", "type": "DNAMutation", "text": [ "498 + 15 G-->T" ], "offsets": [ [ 932, 946 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "372555494" } ] }, { "id": "623", "type": "DNAMutation", "text...	[]	[]	[]
626	14962306	[ { "id": "628", "type": "title", "text": [ "Identification of the Kna/Knb polymorphism and a method for Knops genotyping." ], "offsets": [ [ 0, 77 ] ] }, { "id": "629", "type": "abstract", "text": [ "BACKGROUND: DNA mutations resulting i...	[ { "id": "627", "type": "ProteinMutation", "text": [ "V1561M" ], "offsets": [ [ 1004, 1010 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "41274768" } ] } ]	[]	[]	[]
630	14722925	[ { "id": "634", "type": "title", "text": [ "Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis." ], "offsets": [ [ 0, 133 ] ] }, { "id": "635", "type": "abstract", ...	[ { "id": "631", "type": "ProteinMutation", "text": [ "N34S" ], "offsets": [ [ 694, 698 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "17107315" } ] }, { "id": "632", "type": "DNAMutation", "text": [ ...	[]	[]	[]
636	12915882	[ { "id": "639", "type": "title", "text": [ "Association of microsomal epoxide hydrolase polymorphisms and lung cancer risk." ], "offsets": [ [ 0, 79 ] ] }, { "id": "640", "type": "abstract", "text": [ "Microsomal epoxide hydrolase (mEH) ...	[ { "id": "637", "type": "ProteinMutation", "text": [ "histidine to tyrosine at residue 113" ], "offsets": [ [ 347, 383 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1051740" } ] }, { "id": "638", "type": ...	[]	[]	[]
641	12862311	[ { "id": "644", "type": "title", "text": [ "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency." ], "offsets": [ [ 0, 104 ] ] }, { "id": "645", "type": "abstract", "text": [ "We analyz...	[ { "id": "642", "type": "ProteinMutation", "text": [ "R497X" ], "offsets": [ [ 573, 578 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "750186480" } ] }, { "id": "643", "type": "ProteinMutation", "text"...	[]	[]	[]
646	12820697	[ { "id": "652", "type": "title", "text": [ "Mutation analysis of SLC7A9 in cystinuria patients in Sweden." ], "offsets": [ [ 0, 61 ] ] }, { "id": "653", "type": "abstract", "text": [ "Cystinuria is an autosomal recessive disorder charact...	[ { "id": "647", "type": "ProteinMutation", "text": [ "P261L" ], "offsets": [ [ 1010, 1015 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121908486" } ] }, { "id": "648", "type": "ProteinMutation", "tex...	[]	[]	[]
654	12791036	[ { "id": "657", "type": "title", "text": [ "A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village." ], "offsets": [ [ 0, 138 ] ] }, { "id": "658", "type": "abstrac...	[ { "id": "655", "type": "DNAMutation", "text": [ "c.615delC" ], "offsets": [ [ 782, 791 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "760040233" } ] }, { "id": "656", "type": "ProteinMutation", "text"...	[]	[]	[]
659	12668609	[ { "id": "661", "type": "title", "text": [ "Haplotypes extending across ACE are associated with Alzheimer's disease." ], "offsets": [ [ 0, 72 ] ] }, { "id": "662", "type": "abstract", "text": [ "Numerous genes have been implicated in Alz...	[ { "id": "660", "type": "DNAMutation", "text": [ "A-262T" ], "offsets": [ [ 1096, 1102 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4291" } ] } ]	[]	[]	[]
663	12636044	[ { "id": "665", "type": "title", "text": [ "Identification of new polymorphisms in the CACNA1S gene." ], "offsets": [ [ 0, 56 ] ] }, { "id": "666", "type": "abstract", "text": [ "We identified four novel polymorphisms in the CACNA1S gene...	[ { "id": "664", "type": "DNAMutation", "text": [ "c2403T --> C" ], "offsets": [ [ 334, 346 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7415038" } ] } ]	[]	[]	[]
667	22106692	[ { "id": "669", "type": "title", "text": [ "The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children." ], "offsets": [ [ 0, 98 ] ] }, { "id": "670", "type": "abstract", "text": [ "Recently, molecu...	[ { "id": "668", "type": "ProteinMutation", "text": [ "R32Q" ], "offsets": [ [ 1494, 1498 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "766604251" } ] } ]	[]	[]	[]
671	21666969	[ { "id": "678", "type": "title", "text": [ "Roles of G1359A polymorphism of the cannabinoid receptor gene (CNR1) on weight loss and adipocytokines after a hypocaloric diet." ], "offsets": [ [ 0, 128 ] ] }, { "id": "679", "type": "abstract", "t...	[ { "id": "672", "type": "DNAMutation", "text": [ "G1359A" ], "offsets": [ [ 9, 15 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1049353" } ] }, { "id": "673", "type": "DNAMutation", "text": [ "1...	[]	[]	[]
680	22042570	[ { "id": "683", "type": "title", "text": [ "OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy." ], "offsets": [ [ 0, 87 ] ] }, { "id": "684", "type": "abstract", "text": [ "PURPOSE: To report three ty...	[ { "id": "681", "type": "DNAMutation", "text": [ "c.2708_2711delTTAG" ], "offsets": [ [ 766, 784 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "80356530" } ] }, { "id": "682", "type": "ProteinMutation", ...	[]	[]	[]
685	21615796	[ { "id": "689", "type": "title", "text": [ "Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia." ], "offsets": [ [ 0, 83 ] ] }, { "id": "690", "type": "abstract", "text": [ "INTRODUCTION: IL-17F is a novel...	[ { "id": "686", "type": "SNP", "text": [ "rs763780" ], "offsets": [ [ 303, 311 ] ], "normalized": [] }, { "id": "687", "type": "DNAMutation", "text": [ "7488T/C" ], "offsets": [ [ 313, 320 ] ],...	[]	[]	[]
691	21937424	[ { "id": "707", "type": "title", "text": [ "The TREX1 exonuclease R114H mutation in Aicardi-Gouti res syndrome and lupus reveals dimeric structure requirements for DNA degradation activity." ], "offsets": [ [ 0, 146 ] ] }, { "id": "708", "type": ...	[ { "id": "692", "type": "ProteinMutation", "text": [ "R114H" ], "offsets": [ [ 22, 27 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72556554" } ] }, { "id": "693", "type": "ProteinMutation", "text": [...	[]	[]	[]
709	22180037	[ { "id": "715", "type": "title", "text": [ "Genetic polymorphism of the glutathione-S-transferase P1 gene (GSTP1) and susceptibility to prostate cancer in the Kashmiri population." ], "offsets": [ [ 0, 135 ] ] }, { "id": "716", "type": "abstract",...	[ { "id": "710", "type": "DNAMutation", "text": [ "A > G at nucleotide 313" ], "offsets": [ [ 289, 312 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1695" } ] }, { "id": "711", "type": "ProteinMutation", ...	[]	[]	[]

0

22051099

[ { "id": "6", "type": "title", "text": [ "Variation in the CXCR1 gene (IL8RA) is not associated with susceptibility to chronic periodontitis." ], "offsets": [ [ 0, 99 ] ] }, { "id": "7", "type": "abstract", "text": [ "BACKGROUND: The che...

[ { "id": "1", "type": "SNP", "text": [ "rs2234671" ], "offsets": [ [ 327, 336 ] ], "normalized": [] }, { "id": "2", "type": "DNAMutation", "text": [ "Ex2+860G>C" ], "offsets": [ [ 349, 359 ] ],...

[]

8

22188495

[ { "id": "12", "type": "title", "text": [ "A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology." ], "offsets": [ [ 0, 100 ] ] }, { "id": "13", "type": "abstract", "text": [ "Werner syndrome...

[ { "id": "9", "type": "DNAMutation", "text": [ "3190C>T" ], "offsets": [ [ 1031, 1038 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "747319628" } ] }, { "id": "10", "type": "ProteinMutation", "text": [...

[]

14

20846357

[ { "id": "16", "type": "title", "text": [ "A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome." ], "offsets": [ [ 0, 147 ] ] }, { "id": "17", "type": "...

[ { "id": "15", "type": "ProteinMutation", "text": [ "p.Asp50Asn" ], "offsets": [ [ 374, 384 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28931594" } ] } ]

[]

18

21099701

[ { "id": "22", "type": "title", "text": [ "Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)." ], "offsets": [ [ 0, 92 ] ] }, { "id": "23", "type": "abstract", "text": [ "BACKGROUND: Pycnodysosto...

[ { "id": "19", "type": "DNAMutation", "text": [ "c.908G>A" ], "offsets": [ [ 741, 749 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "756250449" } ] }, { "id": "20", "type": "ProteinMutation", "text": [...

[]

24

20801104

[ { "id": "29", "type": "title", "text": [ "Association study of polymorphisms in the promoter region of DRD4 with schizophrenia, depression, and heroin addiction." ], "offsets": [ [ 0, 119 ] ] }, { "id": "30", "type": "abstract", "text": [ ...

[ { "id": "25", "type": "DNAMutation", "text": [ "-616C/G" ], "offsets": [ [ 600, 607 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "747302" } ] }, { "id": "26", "type": "DNAMutation", "text": [ "...

[]

31

21070631

[ { "id": "35", "type": "title", "text": [ "The dopamine b-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project." ], "offsets": [ [ 0, 125 ] ] }, { "id": "36", "type": "abstract", "text":...

[ { "id": "32", "type": "DNAMutation", "text": [ "-1021C/T" ], "offsets": [ [ 27, 35 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1611115" } ] }, { "id": "33", "type": "SNP", "text": [ "rs161111...

[]

37

21405999

[ { "id": "43", "type": "title", "text": [ "Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy." ], "offsets": [ [ 0, 102 ] ] }, { "id": "44", "type": "abstract", "text": [ "Background: H...

[ { "id": "38", "type": "DNAMutation", "text": [ "c.-17T>C" ], "offsets": [ [ 1077, 1085 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1474867" } ] }, { "id": "39", "type": "DNAMutation", "text": [ ...

[]

45

20709368

[ { "id": "50", "type": "title", "text": [ "The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease." ], "offsets": [ [ 0, 94 ] ] }, { "id": "51", "type": "abstract", "text": [ "Conversion of fibrinog...

[ { "id": "46", "type": "DNAMutation", "text": [ "10034C>T" ], "offsets": [ [ 21, 29 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2066865" } ] }, { "id": "47", "type": "DNAMutation", "text": [ "...

[]

52

20512659

[ { "id": "54", "type": "title", "text": [ "Mutation and association analysis of GEN1 in breast cancer susceptibility." ], "offsets": [ [ 0, 74 ] ] }, { "id": "55", "type": "abstract", "text": [ "GEN1 was recently identified as a key Holl...

[ { "id": "53", "type": "DNAMutation", "text": [ "c.2515_2519delAAGTT" ], "offsets": [ [ 722, 741 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "149936944" } ] } ]

[]

56

20331852

[ { "id": "60", "type": "title", "text": [ "Mutation analysis of the LCE3B/LCE3C genes in Psoriasis." ], "offsets": [ [ 0, 56 ] ] }, { "id": "61", "type": "abstract", "text": [ "BACKGROUND: An association between a common deletion compris...

[ { "id": "57", "type": "SNP", "text": [ "rs4112788" ], "offsets": [ [ 686, 695 ] ], "normalized": [] }, { "id": "58", "type": "SNP", "text": [ "rs4112788" ], "offsets": [ [ 989, 998 ] ], "n...

[]

62

19881468

[ { "id": "68", "type": "title", "text": [ "hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type." ], "offsets": [ [ 0, 74 ] ] }, { "id": "69", "type": "abstract", "text": [ "Human 8-oxoguanine DNA glycosylase 1 (hOGG...

[ { "id": "63", "type": "ProteinMutation", "text": [ "Ser326Cys" ], "offsets": [ [ 6, 15 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1052133" } ] }, { "id": "64", "type": "SNP", "text": [ "rs10...

[]

70

19429592

[ { "id": "75", "type": "title", "text": [ "RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population." ], "offsets": [ [ 0, 97 ] ] }, { "id": "76", "type": "abstract", "text": [ "BACKGROUND: Mutatio...

[ { "id": "71", "type": "DNAMutation", "text": [ "c.507G>T" ], "offsets": [ [ 854, 862 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "369037463" } ] }, { "id": "72", "type": "ProteinMutation", "text": [...

[]

77

19223935

[ { "id": "79", "type": "title", "text": [ "Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension." ], "offsets": [ [ 0, 109 ] ] }, { "id": "80", "type": "abstract", "text": [ "Pulmon...

[ { "id": "78", "type": "DNAMutation", "text": [ "G-669A" ], "offsets": [ [ 962, 968 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "115604088" } ] } ]

[]

81

19067809

[ { "id": "85", "type": "title", "text": [ "Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system." ], "offsets": [ [ 0, 144 ] ] }, { "id": "86", "type": "abs...

[ { "id": "82", "type": "DNAMutation", "text": [ "A 11666C" ], "offsets": [ [ 722, 730 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5186" } ] }, { "id": "83", "type": "DNAMutation", "text": [ "A...

[]

87

18672102

[ { "id": "94", "type": "title", "text": [ "GATA4 mutations in 486 Chinese patients with congenital heart disease." ], "offsets": [ [ 0, 70 ] ] }, { "id": "95", "type": "abstract", "text": [ "Recent studies have reported germline mutation...

[ { "id": "88", "type": "ProteinMutation", "text": [ "A6V" ], "offsets": [ [ 728, 731 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "199922907" } ] }, { "id": "89", "type": "ProteinMutation", "text": [ ...

[]

96

18492086

[ { "id": "98", "type": "title", "text": [ "Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations." ], "offsets": [ [ 0, 112 ] ] }, { "id": "99", "type": "abstract", "text": [ "Hom...

[ { "id": "97", "type": "DNAMutation", "text": [ "c.2068-4T>A" ], "offsets": [ [ 1088, 1099 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "41291161" } ] } ]

[]

100

18397285

[ { "id": "107", "type": "title", "text": [ "L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease." ], "offsets": [ [ 0, 179 ] ] }, ...

[ { "id": "101", "type": "ProteinMutation", "text": [ "L1503R" ], "offsets": [ [ 0, 6 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "61750097" } ] }, { "id": "102", "type": "DNAMutation", "text": [ ...

[]

109

18189233

[ { "id": "115", "type": "title", "text": [ "RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans." ], "offsets": [ [ 0, 82 ] ] }, { "id": "116", "type": "abstract", "text": [ "BACKGROUND: Afro-Caribbeans from...

[ { "id": "110", "type": "ProteinMutation", "text": [ "R462Q" ], "offsets": [ [ 720, 725 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "486907" } ] }, { "id": "111", "type": "ProteinMutation", "text": [...

[]

117

18166824

[ { "id": "121", "type": "title", "text": [ "Genetic investigation of four meiotic genes in women with premature ovarian failure." ], "offsets": [ [ 0, 84 ] ] }, { "id": "122", "type": "abstract", "text": [ "OBJECTIVE: The goal of this st...

[ { "id": "118", "type": "ProteinMutation", "text": [ "amino acid (proline) with a polar amino acid (serine) at position 29" ], "offsets": [ [ 880, 948 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2075789" } ] }, ...

[]

123

19276632

[ { "id": "130", "type": "title", "text": [ "Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate." ], "offsets": [ [ 0, 112 ] ] }, { "id": "131", "type": "abstract", "text": [ "I...

[ { "id": "124", "type": "DNAMutation", "text": [ "c.262G>A" ], "offsets": [ [ 1234, 1242 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72667003" } ] }, { "id": "125", "type": "ProteinMutation", "text"...

[]

132

17391797

[ { "id": "141", "type": "title", "text": [ "The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population." ], "offsets": [ [ 0, 149 ] ] }, { "id": "142", "type...

[ { "id": "133", "type": "ProteinMutation", "text": [ "V175M" ], "offsets": [ [ 54, 59 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7946" } ] }, { "id": "134", "type": "ProteinMutation", "text": [ ...

[]

143

17059986

[ { "id": "146", "type": "title", "text": [ "A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension." ], "offsets": [ [ 0, 112 ] ] }, { "id": "147", "type": "abstract", "text": [ "W...

[ { "id": "144", "type": "ProteinMutation", "text": [ "serine by leucine at amino acid position 555" ], "offsets": [ [ 708, 752 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "148038173" } ] }, { "id": "145", ...

[]

148

17033974

[ { "id": "150", "type": "title", "text": [ "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy." ], "offsets": [ [ 0, 101 ] ] }, { "id": "151", "type": "abstract", "text": [ "Retinal sign...

[ { "id": "149", "type": "DNAMutation", "text": [ "c.2406C-->A" ], "offsets": [ [ 823, 834 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "71454844" } ] } ]

[]

152

17003357

[ { "id": "156", "type": "title", "text": [ "A haplotype-based analysis of the PTPN22 locus in type 1 diabetes." ], "offsets": [ [ 0, 66 ] ] }, { "id": "157", "type": "abstract", "text": [ "A recent addition to the list of widely confirme...

[ { "id": "153", "type": "DNAMutation", "text": [ "1858C/T" ], "offsets": [ [ 359, 366 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "2476601" } ] }, { "id": "154", "type": "DNAMutation", "text": [ ...

[]

158

16644711

[ { "id": "162", "type": "title", "text": [ "A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo." ], "offsets": [ [ 0, 92 ] ] }, { "id": "163", "type": "abstract", "text": [ "Diminished insulin sen...

[ { "id": "159", "type": "ProteinMutation", "text": [ "Tyr1306Cys" ], "offsets": [ [ 13, 23 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "148969251" } ] }, { "id": "160", "type": "ProteinMutation", "te...

[]

164

16543197

[ { "id": "167", "type": "title", "text": [ "A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis." ], "offsets": [ [ 0, 93 ] ] }, { "id": "168", "type": "abstract", "text": [ "PURPOSE: To identify ...

[ { "id": "165", "type": "ProteinMutation", "text": [ "G1103R" ], "offsets": [ [ 2, 8 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "62636275" } ] }, { "id": "166", "type": "ProteinMutation", "text": [ ...

[]

169

16525586

[ { "id": "172", "type": "title", "text": [ "Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach." ], "offsets": [ [ 0, 133 ] ] }, { "id": "173", "type": "abstract", ...

[ { "id": "170", "type": "ProteinMutation", "text": [ "Arg260His" ], "offsets": [ [ 1463, 1472 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121913071" } ] }, { "id": "171", "type": "ProteinMutation", ...

[]

174

16256386

[ { "id": "188", "type": "title", "text": [ "Phenylketonuria mutations in Northern China." ], "offsets": [ [ 0, 44 ] ] }, { "id": "189", "type": "abstract", "text": [ "Mutation spectrum of phenylalanine hydroxylase (PAH) gene in patients ...

[ { "id": "175", "type": "ProteinMutation", "text": [ "R243Q" ], "offsets": [ [ 659, 664 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "62508588" } ] }, { "id": "176", "type": "ProteinMutation", "text":...

[]

190

16252083

[ { "id": "199", "type": "title", "text": [ "Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression." ], "offsets": [ [ 0, 95 ] ] }, { "id": "200", "type": "abstract", "text": [ "The response of the...

[ { "id": "191", "type": "DNAMutation", "text": [ "A --> G transition at 127 position" ], "offsets": [ [ 674, 708 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "780496649" } ] }, { "id": "192", "type": "Pro...

[]

201

16186368

[ { "id": "204", "type": "title", "text": [ "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations." ], "offsets": [ [ 0, 80 ] ] }, { "id": "205", "type": "abstract", "text": [ "PURPOSE: Mutations of the CYP4V2 g...

[ { "id": "202", "type": "ProteinMutation", "text": [ "S482X" ], "offsets": [ [ 874, 879 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "146494374" } ] }, { "id": "203", "type": "ProteinMutation", "text"...

[]

206

16181814

[ { "id": "217", "type": "title", "text": [ "Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome." ], "offsets": [ [ 0, 127 ] ] }, { "id": "218", "type": "abstract", "te...

[ { "id": "207", "type": "ProteinMutation", "text": [ "E873stop" ], "offsets": [ [ 807, 815 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121918047" } ] }, { "id": "208", "type": "ProteinMutation", "te...

[]

219

16088915

[ { "id": "223", "type": "title", "text": [ "Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita." ], "offsets": [ [ 0, 118 ] ] }, { "id": "224", "type": "abstract", "text": [ ...

[ { "id": "220", "type": "ProteinMutation", "text": [ "arginine at amino acid 792 to a codon for glycine" ], "offsets": [ [ 713, 762 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121912895" } ] }, { "id": "221...

[]

225

16051693

[ { "id": "230", "type": "title", "text": [ "Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)." ], "offsets": [ [ 0, 93 ] ] }, { "id": "231", "type": "abstract", "text": [ "Phosphatidylethanolam...

[ { "id": "226", "type": "ProteinMutation", "text": [ "V175M" ], "offsets": [ [ 517, 522 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7946" } ] }, { "id": "227", "type": "ProteinMutation", "text": [ ...

[]

232

15880727

[ { "id": "243", "type": "title", "text": [ "The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe." ], "offsets": [ [ 0, 117 ] ] }, { "id": "244", "type": "abstract", "text": [ ...

[ { "id": "233", "type": "ProteinMutation", "text": [ "p.A150P" ], "offsets": [ [ 679, 686 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1800546" } ] }, { "id": "234", "type": "ProteinMutation", "text"...

[]

245

15770495

[ { "id": "259", "type": "title", "text": [ "New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2." ], "offsets": [ [ 0, 115 ] ] }, { "id": "260", "type": "abstract", "text": [ ...

[ { "id": "246", "type": "ProteinMutation", "text": [ "G183S" ], "offsets": [ [ 686, 691 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121434247" } ] }, { "id": "247", "type": "ProteinMutation", "text"...

[]

261

15754732

[ { "id": "264", "type": "title", "text": [ "Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics." ], "offsets": [ [ 0, 122 ] ] }, { "id": "265", "type": "abstract", "text": ...

[ { "id": "262", "type": "ProteinMutation", "text": [ "R171Q" ], "offsets": [ [ 1398, 1403 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "607969" } ] }, { "id": "263", "type": "ProteinMutation", "text":...

[]

266

15749661

[ { "id": "279", "type": "title", "text": [ "Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis." ], "offsets": [ [ 0, 115 ] ] }, { "id": "280", "type": "abstract", "text": [ ...

[ { "id": "267", "type": "ProteinMutation", "text": [ "L490R" ], "offsets": [ [ 21, 26 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "80338886" } ] }, { "id": "268", "type": "ProteinMutation", "text": [...

[]

281

15668505

[ { "id": "287", "type": "title", "text": [ "Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers." ], "offsets": [ [ 0, 100 ] ] }, { "id": "288", "type": "abstract", "text": [ "The HH genoty...

[ { "id": "282", "type": "ProteinMutation", "text": [ "N372H" ], "offsets": [ [ 177, 182 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "144848" } ] }, { "id": "283", "type": "ProteinMutation", "text": [...

[]

289

15636431

[ { "id": "291", "type": "title", "text": [ "Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms." ], "offsets": [ [ 0, 92 ] ] }, { "id": "292", "type": "abstract", "text": [ "The KAL1 gene has a cl...

[ { "id": "290", "type": "DNAMutation", "text": [ "T to C substitution at position 1833" ], "offsets": [ [ 256, 292 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "809446" } ] } ]

[]

293

15485686

[ { "id": "296", "type": "title", "text": [ "A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia." ], "offsets": [ [ 0, 121 ] ] }, { "id": "297", "type": "abstract", "text": [...

[ { "id": "294", "type": "DNAMutation", "text": [ "G-->A substitution at codon 1763" ], "offsets": [ [ 807, 839 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "199473631" } ] }, { "id": "295", "type": "Prote...

[]

298

15304120

[ { "id": "311", "type": "title", "text": [ "Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects." ], "offsets": [ [ 0, 196 ...

[ { "id": "299", "type": "ProteinMutation", "text": [ "P364L" ], "offsets": [ [ 1126, 1131 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "34946978" } ] }, { "id": "300", "type": "DNAMutation", "text": [...

[]

313

15200509

[ { "id": "315", "type": "title", "text": [ "De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome." ], "offsets": [ [ 0, 112 ] ] }, { "id": "316", "type": "abstract", "text": [ "P...

[ { "id": "314", "type": "ProteinMutation", "text": [ "Tyr246X" ], "offsets": [ [ 654, 661 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "137853083" } ] } ]

[]

317

14562027

[ { "id": "322", "type": "title", "text": [ "Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer." ], "offsets": [ [ 0, 87 ] ] }, { "id": "323", "type": "abstract", "text": [ "CYP1B1 has been evaluated a...

[ { "id": "318", "type": "DNAMutation", "text": [ "+142C/G" ], "offsets": [ [ 1061, 1068 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "10012" } ] }, { "id": "319", "type": "DNAMutation", "text": [ ...

[]

324

14508191

[ { "id": "331", "type": "title", "text": [ "Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPER Project." ], "offsets": [ [ 0, 138 ] ] }, { "id": "332", "type": "abstrac...

[ { "id": "325", "type": "DNAMutation", "text": [ "A/C1166" ], "offsets": [ [ 734, 741 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5186" } ] }, { "id": "326", "type": "DNAMutation", "text": [ "...

[]

333

12925671

[ { "id": "335", "type": "title", "text": [ "Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections." ], "offsets": [ [ 0, 144 ] ] }, { "id": "336", "type": "a...

[ { "id": "334", "type": "DNAMutation", "text": [ "C877T in cDNA" ], "offsets": [ [ 919, 932 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121908002" } ] } ]

[]

337

12915397

[ { "id": "340", "type": "title", "text": [ "Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion." ], "offsets": [ [ 0, 86 ] ] }, { "id": "341", "type": "abstract", "text": [ "The onset of type 2 diabetes...

[ { "id": "338", "type": "ProteinMutation", "text": [ "Ala55Val" ], "offsets": [ [ 600, 608 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "660339" } ] }, { "id": "339", "type": "ProteinMutation", "text"...

[]

342

22016685

[ { "id": "349", "type": "title", "text": [ "A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency." ], "offsets": [ [ 0, 126 ] ] }, { "id": "350", "type": "abstract", "tex...

[ { "id": "343", "type": "ProteinMutation", "text": [ "Asp506Gly" ], "offsets": [ [ 26, 35 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "281875258" } ] }, { "id": "344", "type": "DNAMutation", "text": ...

[]

351

21850008

[ { "id": "354", "type": "title", "text": [ "Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes." ], "offsets": [ [ 0, 199...

[ { "id": "352", "type": "DNAMutation", "text": [ "T10191C" ], "offsets": [ [ 909, 916 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "267606890" } ] }, { "id": "353", "type": "ProteinMutation", "text": ...

[]

356

22028770

[ { "id": "367", "type": "title", "text": [ "APOE genotype-function relationship: evidence of -491 A/T promoter polymorphism modifying transcription control but not type 2 diabetes risk." ], "offsets": [ [ 0, 141 ] ] }, { "id": "368", "type": "abst...

[ { "id": "357", "type": "DNAMutation", "text": [ "-491 A/T" ], "offsets": [ [ 49, 57 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "449647" } ] }, { "id": "358", "type": "DNAMutation", "text": [ ...

[]

369

21799811

[ { "id": "375", "type": "title", "text": [ "Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis." ], "offsets": [ [ 0, 136 ] ] }, { "id": "376", "type": "abstract"...

[ { "id": "370", "type": "DNAMutation", "text": [ "677 C>T" ], "offsets": [ [ 22, 29 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801133" } ] }, { "id": "371", "type": "DNAMutation", "text": [ ...

[]

377

20854438

[ { "id": "383", "type": "title", "text": [ "SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda." ], "offsets": [ [ 0, 74 ] ] }, { "id": "384", "type": "abstract", "text": [ "BACKGROUND: Mal de Meleda (MDM) is palmo...

[ { "id": "378", "type": "DNAMutation", "text": [ "G to A substitution in nucleotide 256" ], "offsets": [ [ 1105, 1142 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28937888" } ] }, { "id": "379", "type": ...

[]

385

20887110

[ { "id": "390", "type": "title", "text": [ "Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects." ], "offsets": [ [ 0, 92 ] ] }, { "id": "391", "type": "abstract", "text": [ "OBJECT: Neural tube de...

[ { "id": "386", "type": "DNAMutation", "text": [ "C-->T transition at nucleotide 677" ], "offsets": [ [ 471, 505 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801133" } ] }, { "id": "387", "type": "DNAMu...

[]

392

21080147

[ { "id": "396", "type": "title", "text": [ "Novel CRELD1 gene mutations in patients with atrioventricular septal defect." ], "offsets": [ [ 0, 76 ] ] }, { "id": "397", "type": "abstract", "text": [ "BACKGROUND: Atrioventricular septal de...

[ { "id": "393", "type": "DNAMutation", "text": [ "c.973G>A" ], "offsets": [ [ 1203, 1211 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "755981922" } ] }, { "id": "394", "type": "ProteinMutation", "text...

[]

398

20708777

[ { "id": "409", "type": "title", "text": [ "Association of DNA polymorphisms within the CYP11B2/CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone-producing adenomas." ], "offsets": [ [ 0, 154 ] ] }, { "id": "410", ...

[ { "id": "399", "type": "SNP", "text": [ "rs1799998" ], "offsets": [ [ 791, 800 ] ], "normalized": [] }, { "id": "400", "type": "DNAMutation", "text": [ "C-344 T" ], "offsets": [ [ 802, 809 ] ]...

[]

411

20949073

[ { "id": "414", "type": "title", "text": [ "Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier." ], "offsets": [ [ 0, 77 ] ] }, { "id": "415", "type": "abstract", "text": [ "Approximately 30% of alleles causing ...

[ { "id": "412", "type": "ProteinMutation", "text": [ "E831X" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "397508387" } ] }, { "id": "413", "type": "DNAMutation", "text": [ ...

[]

416

20529581

[ { "id": "420", "type": "title", "text": [ "A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient." ], "offsets": [ [ 0, 90 ] ] }, { "id": "421", "type": "abstract", "text": [ "BACKGROUND: Leukocyte ad...

[ { "id": "417", "type": "DNAMutation", "text": [ "c.899A > T" ], "offsets": [ [ 1150, 1160 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "179363874" } ] }, { "id": "418", "type": "ProteinMutation", "te...

[]

422

20005218

[ { "id": "431", "type": "title", "text": [ "A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population." ], "offsets": [ [ 0, 165 ] ] }, { "id": ...

[ { "id": "423", "type": "DNAMutation", "text": [ "G-395A" ], "offsets": [ [ 302, 308 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1207568" } ] }, { "id": "424", "type": "DNAMutation", "text": [ ...

[]

433

19444361

[ { "id": "438", "type": "title", "text": [ "COL3A1 2209G>A is a predictor of pelvic organ prolapse." ], "offsets": [ [ 0, 55 ] ] }, { "id": "439", "type": "abstract", "text": [ "INTRODUCTION AND HYPOTHESIS: A familial tendency has been d...

[ { "id": "434", "type": "DNAMutation", "text": [ "2209G>A" ], "offsets": [ [ 7, 14 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1800255" } ] }, { "id": "435", "type": "DNAMutation", "text": [ "...

[]

440

19429807

[ { "id": "443", "type": "title", "text": [ "A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease." ], "offsets": [ [ 0, 78 ] ] }, { "id": "444", "type": "abstract", "text": [ "Menkes disease (MD, MIM 309400) is a...

[ { "id": "441", "type": "DNAMutation", "text": [ "c.3943G>A" ], "offsets": [ [ 582, 591 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "797045390" } ] }, { "id": "442", "type": "ProteinMutation", "text"...

[]

445

19298002

[ { "id": "448", "type": "title", "text": [ "Genetic polymorphism in chemokine CCL22 and susceptibility to Helicobacter pylori infection-related gastric carcinoma." ], "offsets": [ [ 0, 118 ] ] }, { "id": "449", "type": "abstract", "text": [ ...

[ { "id": "446", "type": "DNAMutation", "text": [ "16C-->A" ], "offsets": [ [ 956, 963 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4359426" } ] }, { "id": "447", "type": "SNP", "text": [ "refer...

[]

450

19110214

[ { "id": "453", "type": "title", "text": [ "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan." ], "offsets": [ [ 0, 132 ] ] }, { "id": "454", "type": "abstract", ...

[ { "id": "451", "type": "DNAMutation", "text": [ "c.6799G --> A" ], "offsets": [ [ 922, 935 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "545688154" } ] }, { "id": "452", "type": "ProteinMutation", "t...

[]

455

19012332

[ { "id": "457", "type": "title", "text": [ "Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome." ], "offsets": [ [ 0, 71 ] ] }, { "id": "458", "type": "abstract", "text": [ "We present a girl who developed adrenocorti...

[ { "id": "456", "type": "ProteinMutation", "text": [ "Arg282Trp" ], "offsets": [ [ 415, 424 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "28934574" } ] } ]

[]

459

18806880

[ { "id": "464", "type": "title", "text": [ "Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation." ], "offsets": [ [ 0, 145 ] ] }, { "id": "465", "type": "...

[ { "id": "460", "type": "DNAMutation", "text": [ "1493A>T" ], "offsets": [ [ 1378, 1385 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "267607431" } ] }, { "id": "461", "type": "ProteinMutation", "text"...

[]

466

18779591

[ { "id": "470", "type": "title", "text": [ "Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors." ], "offsets": [ [ 0, 107 ] ] }, { "id": "471", "type": "abstract", "text": [ "There ...

[ { "id": "467", "type": "ProteinMutation", "text": [ "Ile(146)-->Leu" ], "offsets": [ [ 806, 820 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72478580" } ] }, { "id": "468", "type": "ProteinMutation", ...

[]

472

18270997

[ { "id": "479", "type": "title", "text": [ "Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women." ], "offsets": [ [ 0, 137 ] ] }, { "id": "480", "type": "abstract...

[ { "id": "473", "type": "ProteinMutation", "text": [ "Val158Met" ], "offsets": [ [ 79, 88 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4680" } ] }, { "id": "474", "type": "DNAMutation", "text": [ ...

[]

481

18266724

[ { "id": "484", "type": "title", "text": [ "Histamine-N-methyl transferase polymorphism and risk for migraine." ], "offsets": [ [ 0, 66 ] ] }, { "id": "485", "type": "abstract", "text": [ "BACKGROUND/OBJECTIVES: Histamine has been implic...

[ { "id": "482", "type": "DNAMutation", "text": [ "C314T" ], "offsets": [ [ 387, 392 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "11558538" } ] }, { "id": "483", "type": "ProteinMutation", "text": [ ...

[]

486

17635946

[ { "id": "491", "type": "title", "text": [ "A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance." ], "offsets": [ [ 0, 152 ] ] }, { "id": "492", "t...

[ { "id": "487", "type": "DNAMutation", "text": [ "(T --> C) substitution at position 2209" ], "offsets": [ [ 793, 832 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121909727" } ] }, { "id": "488", "type":...

[]

493

17615540

[ { "id": "498", "type": "title", "text": [ "A novel \"pearl box\" cataract associated with a mutation in the connexin 46 (GJA3) gene." ], "offsets": [ [ 0, 87 ] ] }, { "id": "499", "type": "abstract", "text": [ "PURPOSE: To undertake mut...

[ { "id": "494", "type": "DNAMutation", "text": [ "C260T" ], "offsets": [ [ 743, 748 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "864309687" } ] }, { "id": "495", "type": "DNAMutation", "text": [ ...

[]

500

17595233

[ { "id": "502", "type": "title", "text": [ "Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease." ], "offsets": [ [ 0, 138 ] ] }, { "id": "503", "type": "abstrac...

[ { "id": "501", "type": "ProteinMutation", "text": [ "D299G" ], "offsets": [ [ 2271, 2276 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4986790" } ] } ]

[]

504

17221831

[ { "id": "509", "type": "title", "text": [ "The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients." ], "offsets": [ [ 0, 123 ] ] }, { "id": "510", "type": "abstract", "text":...

[ { "id": "505", "type": "ProteinMutation", "text": [ "G51S" ], "offsets": [ [ 4, 8 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1049564" } ] }, { "id": "506", "type": "ProteinMutation", "text": [ ...

[]

511

17065190

[ { "id": "516", "type": "title", "text": [ "Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians." ], "offsets": [ [ 0, 173 ] ] }, { ...

[ { "id": "512", "type": "SNP", "text": [ "rs2857657" ], "offsets": [ [ 924, 933 ] ], "normalized": [] }, { "id": "513", "type": "SNP", "text": [ "rs4586" ], "offsets": [ [ 949, 955 ] ], "no...

[]

518

16953235

[ { "id": "523", "type": "title", "text": [ "Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation." ], "offsets": [ [ 0, 168 ] ] }, { "id...

[ { "id": "519", "type": "DNAMutation", "text": [ "c.32C>T" ], "offsets": [ [ 482, 489 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5030878" } ] }, { "id": "520", "type": "ProteinMutation", "text": [ ...

[]

525

16911351

[ { "id": "529", "type": "title", "text": [ "Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients." ], "offsets": [ [ 0, 90 ] ] }, { "id": "530", "type": "abstract", "text": [ "OBJECTIVES: Dystonia is ...

[ { "id": "526", "type": "DNAMutation", "text": [ "c.646G > C" ], "offsets": [ [ 872, 882 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1801968" } ] }, { "id": "527", "type": "ProteinMutation", "text":...

[]

531

16419642

[ { "id": "543", "type": "title", "text": [ "A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes." ], "offsets": [ [ 0, 141 ] ] }, { "id": "544", "type": "abst...

[ { "id": "532", "type": "ProteinMutation", "text": [ "F826Y" ], "offsets": [ [ 27, 32 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "13306592" } ] }, { "id": "533", "type": "ProteinMutation", "text": [...

[]

545

16288197

[ { "id": "550", "type": "title", "text": [ "Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree." ], "offsets": [ [ 0, 89 ] ] }, { "id": "551", "type": "abstract", "text": [ "PURPOSE: Congenital micro...

[ { "id": "546", "type": "DNAMutation", "text": [ "144 G>A" ], "offsets": [ [ 1433, 1440 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "74315339" } ] }, { "id": "547", "type": "ProteinMutation", "text":...

[]

552

16277682

[ { "id": "560", "type": "title", "text": [ "Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family." ], "offsets": [ [ 0, 138 ] ] }, { "id": "561", "type": "abstrac...

[ { "id": "553", "type": "ProteinMutation", "text": [ "M404V" ], "offsets": [ [ 17, 22 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "771966860" } ] }, { "id": "554", "type": "ProteinMutation", "text": ...

[]

562

16167150

[ { "id": "566", "type": "title", "text": [ "Genetic variation in UCP2 (uncoupling protein-2) is associated with energy metabolism in Pima Indians." ], "offsets": [ [ 0, 102 ] ] }, { "id": "567", "type": "abstract", "text": [ "AIMS/HYPOTH...

[ { "id": "563", "type": "ProteinMutation", "text": [ "Ala55Val" ], "offsets": [ [ 752, 760 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "660339" } ] }, { "id": "564", "type": "ProteinMutation", "text"...

[]

568

16152606

[ { "id": "572", "type": "title", "text": [ "Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies." ], "offsets": [ [ 0, 136 ] ] }, { "id": "573", "type": "abstract"...

[ { "id": "569", "type": "DNAMutation", "text": [ "643C>T" ], "offsets": [ [ 588, 594 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "34767364" } ] }, { "id": "570", "type": "ProteinMutation", "text": [ ...

[]

574

16046395

[ { "id": "579", "type": "title", "text": [ "Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G." ], "offsets": [ [ 0, 89 ] ] }, { "id": "580", "type": "abstract", "text": [ "As a primary target for o...

[ { "id": "575", "type": "DNAMutation", "text": [ "A118G" ], "offsets": [ [ 83, 88 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1799971" } ] }, { "id": "576", "type": "DNAMutation", "text": [ "A...

[]

581

15680411

[ { "id": "586", "type": "title", "text": [ "DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers." ], "offsets": [ [ 0, 108 ] ] }, { "id": "587", "type": "abstract", "text": [ "Polym...

[ { "id": "582", "type": "ProteinMutation", "text": [ "R194W" ], "offsets": [ [ 439, 444 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1799782" } ] }, { "id": "583", "type": "ProteinMutation", "text": ...

[]

588

15609295

[ { "id": "591", "type": "title", "text": [ "Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome." ], "offsets": [ [ 0, 167 ] ] }, { "id"...

[ { "id": "589", "type": "ProteinMutation", "text": [ "Asn45Ser" ], "offsets": [ [ 69, 77 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5030764" } ] }, { "id": "590", "type": "ProteinMutation", "text":...

[]

593

15316799

[ { "id": "595", "type": "title", "text": [ "Genetic variation in apolipoprotein D and Alzheimer's disease." ], "offsets": [ [ 0, 62 ] ] }, { "id": "596", "type": "abstract", "text": [ "Apolipoprotein D (apoD) is a lipoprotein-associated ...

[ { "id": "594", "type": "ProteinMutation", "text": [ "Phe-->Ser at codon 15" ], "offsets": [ [ 515, 536 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5952" } ] } ]

[]

597

15200408

[ { "id": "599", "type": "title", "text": [ "Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity." ], "offsets": [ [ 0, 116 ] ] }, { "id": "600", "type": "abstract", "text": [ ...

[ { "id": "598", "type": "ProteinMutation", "text": [ "Ala7Val" ], "offsets": [ [ 1495, 1502 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "373513519" } ] } ]

[]

601

15198485

[ { "id": "611", "type": "title", "text": [ "Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene." ], "offsets": [ [ 0, 88 ] ] }, { "id": "612", "type": "abstract", "text": [ "Endothelin-1 (ET-1) is a p...

[ { "id": "602", "type": "ProteinMutation", "text": [ "Lys198Asn" ], "offsets": [ [ 18, 27 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "5370" } ] }, { "id": "603", "type": "DNAMutation", "text": [ ...

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613

15041272

[ { "id": "619", "type": "title", "text": [ "A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation." ], "offsets": [ [ 0, 88 ] ] }, { "id": "620", "type": "abstract", "text": [ "Clinical, laboratory and g...

[ { "id": "614", "type": "ProteinMutation", "text": [ "R1306W" ], "offsets": [ [ 72, 78 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "61749384" } ] }, { "id": "615", "type": "DNAMutation", "text": [ ...

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621

15003823

[ { "id": "624", "type": "title", "text": [ "Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations." ], "offsets": [ [ 0, 124 ] ] }, { "id": "625", "type": "abstract", "text"...

[ { "id": "622", "type": "DNAMutation", "text": [ "498 + 15 G-->T" ], "offsets": [ [ 932, 946 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "372555494" } ] }, { "id": "623", "type": "DNAMutation", "text...

[]

626

14962306

[ { "id": "628", "type": "title", "text": [ "Identification of the Kna/Knb polymorphism and a method for Knops genotyping." ], "offsets": [ [ 0, 77 ] ] }, { "id": "629", "type": "abstract", "text": [ "BACKGROUND: DNA mutations resulting i...

[ { "id": "627", "type": "ProteinMutation", "text": [ "V1561M" ], "offsets": [ [ 1004, 1010 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "41274768" } ] } ]

[]

630

14722925

[ { "id": "634", "type": "title", "text": [ "Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis." ], "offsets": [ [ 0, 133 ] ] }, { "id": "635", "type": "abstract", ...

[ { "id": "631", "type": "ProteinMutation", "text": [ "N34S" ], "offsets": [ [ 694, 698 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "17107315" } ] }, { "id": "632", "type": "DNAMutation", "text": [ ...

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636

12915882

[ { "id": "639", "type": "title", "text": [ "Association of microsomal epoxide hydrolase polymorphisms and lung cancer risk." ], "offsets": [ [ 0, 79 ] ] }, { "id": "640", "type": "abstract", "text": [ "Microsomal epoxide hydrolase (mEH) ...

[ { "id": "637", "type": "ProteinMutation", "text": [ "histidine to tyrosine at residue 113" ], "offsets": [ [ 347, 383 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1051740" } ] }, { "id": "638", "type": ...

[]

641

12862311

[ { "id": "644", "type": "title", "text": [ "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency." ], "offsets": [ [ 0, 104 ] ] }, { "id": "645", "type": "abstract", "text": [ "We analyz...

[ { "id": "642", "type": "ProteinMutation", "text": [ "R497X" ], "offsets": [ [ 573, 578 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "750186480" } ] }, { "id": "643", "type": "ProteinMutation", "text"...

[]

646

12820697

[ { "id": "652", "type": "title", "text": [ "Mutation analysis of SLC7A9 in cystinuria patients in Sweden." ], "offsets": [ [ 0, 61 ] ] }, { "id": "653", "type": "abstract", "text": [ "Cystinuria is an autosomal recessive disorder charact...

[ { "id": "647", "type": "ProteinMutation", "text": [ "P261L" ], "offsets": [ [ 1010, 1015 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "121908486" } ] }, { "id": "648", "type": "ProteinMutation", "tex...

[]

654

12791036

[ { "id": "657", "type": "title", "text": [ "A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village." ], "offsets": [ [ 0, 138 ] ] }, { "id": "658", "type": "abstrac...

[ { "id": "655", "type": "DNAMutation", "text": [ "c.615delC" ], "offsets": [ [ 782, 791 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "760040233" } ] }, { "id": "656", "type": "ProteinMutation", "text"...

[]

659

12668609

[ { "id": "661", "type": "title", "text": [ "Haplotypes extending across ACE are associated with Alzheimer's disease." ], "offsets": [ [ 0, 72 ] ] }, { "id": "662", "type": "abstract", "text": [ "Numerous genes have been implicated in Alz...

[ { "id": "660", "type": "DNAMutation", "text": [ "A-262T" ], "offsets": [ [ 1096, 1102 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "4291" } ] } ]

[]

663

12636044

[ { "id": "665", "type": "title", "text": [ "Identification of new polymorphisms in the CACNA1S gene." ], "offsets": [ [ 0, 56 ] ] }, { "id": "666", "type": "abstract", "text": [ "We identified four novel polymorphisms in the CACNA1S gene...

[ { "id": "664", "type": "DNAMutation", "text": [ "c2403T --> C" ], "offsets": [ [ 334, 346 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "7415038" } ] } ]

[]

667

22106692

[ { "id": "669", "type": "title", "text": [ "The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children." ], "offsets": [ [ 0, 98 ] ] }, { "id": "670", "type": "abstract", "text": [ "Recently, molecu...

[ { "id": "668", "type": "ProteinMutation", "text": [ "R32Q" ], "offsets": [ [ 1494, 1498 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "766604251" } ] } ]

[]

671

21666969

[ { "id": "678", "type": "title", "text": [ "Roles of G1359A polymorphism of the cannabinoid receptor gene (CNR1) on weight loss and adipocytokines after a hypocaloric diet." ], "offsets": [ [ 0, 128 ] ] }, { "id": "679", "type": "abstract", "t...

[ { "id": "672", "type": "DNAMutation", "text": [ "G1359A" ], "offsets": [ [ 9, 15 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1049353" } ] }, { "id": "673", "type": "DNAMutation", "text": [ "1...

[]

680

22042570

[ { "id": "683", "type": "title", "text": [ "OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy." ], "offsets": [ [ 0, 87 ] ] }, { "id": "684", "type": "abstract", "text": [ "PURPOSE: To report three ty...

[ { "id": "681", "type": "DNAMutation", "text": [ "c.2708_2711delTTAG" ], "offsets": [ [ 766, 784 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "80356530" } ] }, { "id": "682", "type": "ProteinMutation", ...

[]

685

21615796

[ { "id": "689", "type": "title", "text": [ "Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia." ], "offsets": [ [ 0, 83 ] ] }, { "id": "690", "type": "abstract", "text": [ "INTRODUCTION: IL-17F is a novel...

[ { "id": "686", "type": "SNP", "text": [ "rs763780" ], "offsets": [ [ 303, 311 ] ], "normalized": [] }, { "id": "687", "type": "DNAMutation", "text": [ "7488T/C" ], "offsets": [ [ 313, 320 ] ],...

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691

21937424

[ { "id": "707", "type": "title", "text": [ "The TREX1 exonuclease R114H mutation in Aicardi-Gouti res syndrome and lupus reveals dimeric structure requirements for DNA degradation activity." ], "offsets": [ [ 0, 146 ] ] }, { "id": "708", "type": ...

[ { "id": "692", "type": "ProteinMutation", "text": [ "R114H" ], "offsets": [ [ 22, 27 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "72556554" } ] }, { "id": "693", "type": "ProteinMutation", "text": [...

[]

709

22180037

[ { "id": "715", "type": "title", "text": [ "Genetic polymorphism of the glutathione-S-transferase P1 gene (GSTP1) and susceptibility to prostate cancer in the Kashmiri population." ], "offsets": [ [ 0, 135 ] ] }, { "id": "716", "type": "abstract",...

[ { "id": "710", "type": "DNAMutation", "text": [ "A > G at nucleotide 313" ], "offsets": [ [ 289, 312 ] ], "normalized": [ { "db_name": "dbsnp", "db_id": "1695" } ] }, { "id": "711", "type": "ProteinMutation", ...

[]