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14 | 20846357 | [
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31 | 21070631 | [
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70 | 19429592 | [
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96 | 18492086 | [
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"type": "abstract",
"text": [
"There ... | [
{
"id": "467",
"type": "ProteinMutation",
"text": [
"Ile(146)-->Leu"
],
"offsets": [
[
806,
820
]
],
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{
"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,
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]
],
"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": [
... | [] | [] | [] |
End of preview. Expand in Data Studio
Dataset Card for tmVar v2
This dataset contains 158 PubMed articles manually annotated with mutation mentions of various kinds and dbsnp normalizations for each of them. It can be used for NER tasks and NED tasks, This dataset has a single split
Citation Information
@article{wei2018tmvar,
title={tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine},
author={Wei, Chih-Hsuan and Phan, Lon and Feltz, Juliana and Maiti, Rama and Hefferon, Tim and Lu, Zhiyong},
journal={Bioinformatics},
volume={34},
number={1},
pages={80--87},
year={2018},
publisher={Oxford University Press}
}
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