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|---|---|---|---|---|---|---|
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26 | 22295085 | [
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29 | 22174939 | [
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32 | 21943124 | [
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"BACKGROUND: Signalling by fibr... | [] | [] | [] | [] |
35 | 21779184 | [
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38 | 21640722 | [
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41 | 21499297 | [
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46 | 21695597 | [
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55 | 21629979 | [
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58 | 22048266 | [
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65 | 22028770 | [
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79 | 21771880 | [
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"Our... | [] | [] | [] | [] |
82 | 21790735 | [
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"... | [] | [] | [] | [] |
85 | 21506149 | [
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"BACKGROUND: We describe the four dec... | [] | [] | [] | [] |
88 | 21904390 | [
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96 | 21496008 | [
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107 | 21717135 | [
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110 | 21976953 | [
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116 | 21546516 | [
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119 | 21799811 | [
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127 | 21976404 | [
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130 | 21879313 | [
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137 | 20854438 | [
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143 | 20728296 | [
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146 | 20887110 | [
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... | [] | [] | [] |
153 | 20602574 | [
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... | [
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159 | 21080147 | [
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164 | 20708777 | [
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177 | 21059483 | [
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... | [] | [] | [] | [] |
180 | 21103668 | [
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... | [] | [] | [] | [] |
183 | 20682662 | [
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186 | 20806042 | [
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192 | 21159032 | [
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"AIM: Th... | [] | [] | [] | [] |
195 | 20949073 | [
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200 | 20651814 | [
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... | [] | [] | [] | [] |
203 | 20534762 | [
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211 | 20529581 | [
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216 | 20523265 | [
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232 | 20352162 | [
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235 | 20202300 | [
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238 | 20126413 | [
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241 | 20113448 | [
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"id": "243",... | [] | [] | [] | [] |
244 | 20017074 | [
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247 | 20005218 | [
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259 | 19897031 | [
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266 | 19766614 | [
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272 | 19730022 | [
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275 | 19681861 | [
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279 | 19559455 | [
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283 | 19542096 | [
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{
"id": "285",
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"... | [] | [] | [] | [] |
286 | 19477219 | [
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289 | 19444361 | [
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296 | 19429807 | [
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593,
601
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302 | 19394258 | [
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420,
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306 | 19365571 | [
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1130,
1139
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313 | 19298002 | [
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0,
118
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{
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... | [
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969,
9... | [] | [] | [] |
318 | 19132389 | [
{
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0,
149
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{
"id": "320",
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321 | 19129715 | [
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0,
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1073,
10... | [] | [] | [] |
327 | 19110214 | [
{
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0,
132
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{
"id": "331",
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... | [
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953,
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332 | 19101703 | [
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68
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{
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"BACKGROUND: Oculopharyngeal muscular dystrophy... | [] | [] | [] | [] |
335 | 19082493 | [
{
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0,
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"id... | [
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886,
898
... | [] | [] | [] |
342 | 19047089 | [
{
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{
"id": "344",
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"PURPOSE: The im... | [] | [] | [] | [] |
345 | 19037252 | [
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0,
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{
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348 | 19012332 | [
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0,
71
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{
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415,
424
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] | [] | [] | [] |
352 | 18838613 | [
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0,
... | [] | [] | [] | [] |
355 | 18827003 | [
{
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0,
139
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{
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... | [] | [] | [] |
364 | 18813858 | [
{
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0,
83
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{
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731,
737
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... | [] | [] | [] |
369 | 18806880 | [
{
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0,
145
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{
"id": "374",
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1510,
1515
... | [] | [] | [] |
375 | 18779591 | [
{
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0,
107
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]
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{
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{
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[
963,
... | [] | [] | [] |
381 | 18704161 | [
{
"id": "382",
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0,
47
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]
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{
"id": "383",
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"text": [
"There is much interest in characterizing the variation in a human i... | [] | [] | [] | [] |
384 | 18398821 | [
{
"id": "385",
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0,
158
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]
},
{
"id": "386",
... | [] | [] | [] | [] |
387 | 18385169 | [
{
"id": "392",
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0,
78
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]
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{
"id": "393",
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"Genetic association studies have rel... | [
{
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"-308G>A"
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5,
12
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"-308G>A"
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[
217,
224
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... | [] | [] | [] |
394 | 18272172 | [
{
"id": "399",
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0,
83
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]
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{
"id": "400",
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{
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261,
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"id": "396",
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"2398+1G>C"
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[
397,
406
... | [] | [] | [] |
401 | 18270997 | [
{
"id": "408",
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0,
137
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{
"id": "409",
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"id": "402",
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79,
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"id": "403",
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[
341,
346
... | [] | [] | [] |
410 | 18266724 | [
{
"id": "413",
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0,
66
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{
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387,
392
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"id": "412",
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"text": [
"Thr105Ile"
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[
429,
438
... | [] | [] | [] |
415 | 18164595 | [
{
"id": "419",
"type": "title",
"text": [
"Mutations in the hairless gene underlie APL in three families of Pakistani origin."
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[
0,
82
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]
},
{
"id": "420",
"type": "abstract",
"text": [
"BACKGROUND: Atrichia with papula... | [
{
"id": "416",
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"1782-83delAG"
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1043,
1055
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{
"id": "417",
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"text": [
"3097delG"
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"offsets": [
[
1173,
11... | [] | [] | [] |
421 | 18046082 | [
{
"id": "424",
"type": "title",
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[
0,
126
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]
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{
"id": "425",
"type": "abstract",
"tex... | [
{
"id": "422",
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46,
66
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{
"id": "423",
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"text": [
"arginine 150 proline"
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[
... | [] | [] | [] |
426 | 18036257 | [
{
"id": "427",
"type": "title",
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0,
134
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{
"id": "428",
"type": "abstract",
... | [] | [] | [] | [] |
429 | 17962469 | [
{
"id": "430",
"type": "title",
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"Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration."
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0,
92
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{
"id": "431",
"type": "abstract",
"text": [
"PURPOSE: To report a l... | [] | [] | [] | [] |
432 | 17951029 | [
{
"id": "436",
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"text": [
"Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene."
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0,
91
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{
"id": "437",
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{
"id": "433",
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64,
71
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"id": "434",
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"G>T substitution at nucleotide c.898"
],
"offsets": [
[
... | [] | [] | [] |
438 | 17868390 | [
{
"id": "442",
"type": "title",
"text": [
"A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family."
],
"offsets": [
[
0,
138
]
]
},
{
"id": "443",
"type": "abstrac... | [
{
"id": "439",
"type": "DNAMutation",
"text": [
"IVS8+4 A>G"
],
"offsets": [
[
24,
34
]
],
"normalized": []
},
{
"id": "440",
"type": "DNAMutation",
"text": [
"IVS8+4 A>G"
],
"offsets": [
[
659,
669
... | [] | [] | [] |
444 | 17635946 | [
{
"id": "448",
"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": "449",
"t... | [
{
"id": "445",
"type": "DNAMutation",
"text": [
"(T --> C) substitution at position 2209"
],
"offsets": [
[
793,
832
]
],
"normalized": []
},
{
"id": "446",
"type": "ProteinMutation",
"text": [
"F737L"
],
"offsets": [
... | [] | [] | [] |
450 | 17634480 | [
{
"id": "454",
"type": "title",
"text": [
"Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer."
],
"offsets": [
[
0,
109
]
]
},
{
"id": "455",
"type": "abstract",
"text": [
"PURP... | [
{
"id": "451",
"type": "SNP",
"text": [
"rs713041"
],
"offsets": [
[
797,
805
]
],
"normalized": []
},
{
"id": "452",
"type": "SNP",
"text": [
"rs757229"
],
"offsets": [
[
810,
818
]
],
"n... | [] | [] | [] |
456 | 17628794 | [
{
"id": "457",
"type": "title",
"text": [
"Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis."
],
"offsets": [
[
0,
75
]
]
},
{
"id": "458",
"type": "abstract",
"text": [
"Polymorphism in manganese superoxide di... | [] | [] | [] | [] |
459 | 17615540 | [
{
"id": "463",
"type": "title",
"text": [
"A novel \"pearl box\" cataract associated with a mutation in the connexin 46 (GJA3) gene."
],
"offsets": [
[
0,
87
]
]
},
{
"id": "464",
"type": "abstract",
"text": [
"PURPOSE: To undertake mut... | [
{
"id": "460",
"type": "DNAMutation",
"text": [
"C260T"
],
"offsets": [
[
743,
748
]
],
"normalized": []
},
{
"id": "461",
"type": "DNAMutation",
"text": [
"C260T"
],
"offsets": [
[
934,
939
]
... | [] | [] | [] |
465 | 17595233 | [
{
"id": "468",
"type": "title",
"text": [
"Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease."
],
"offsets": [
[
0,
138
]
]
},
{
"id": "469",
"type": "abstrac... | [
{
"id": "466",
"type": "ProteinMutation",
"text": [
"D299G"
],
"offsets": [
[
2271,
2276
]
],
"normalized": []
},
{
"id": "467",
"type": "ProteinMutation",
"text": [
"P631H"
],
"offsets": [
[
2286,
2291... | [] | [] | [] |
470 | 17495183 | [
{
"id": "480",
"type": "title",
"text": [
"Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study."
],
"offsets": [
[
0,
96
]
]
},
{
"id": "481",
"type": "abstract",
"text": [
"We recently showed... | [
{
"id": "471",
"type": "SNP",
"text": [
"rs5966709"
],
"offsets": [
[
824,
833
]
],
"normalized": []
},
{
"id": "472",
"type": "SNP",
"text": [
"rs4828037"
],
"offsets": [
[
835,
844
]
],
... | [] | [] | [] |
482 | 17437275 | [
{
"id": "483",
"type": "title",
"text": [
"Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy."
],
"offsets": [
[
0,
120
]
]
},
{
"id": "484",
"type": "abstract",
"text": [
... | [] | [] | [] | [] |
485 | 17426470 | [
{
"id": "486",
"type": "title",
"text": [
"3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors."
],
"offsets": [
[
0,
107
]
]
},
{
"id": "487",
"type": "abstract",
"text": [
"Desmoi... | [] | [] | [] | [] |
488 | 17372760 | [
{
"id": "491",
"type": "title",
"text": [
"Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes."
],
"offsets": [
[
0,
144
]
]
},
{
"id": "492",
"type": "a... | [
{
"id": "489",
"type": "DNAMutation",
"text": [
"IVS10-1G>A"
],
"offsets": [
[
1086,
1096
]
],
"normalized": []
},
{
"id": "490",
"type": "ProteinMutation",
"text": [
"L638P"
],
"offsets": [
[
1140,
114... | [] | [] | [] |
493 | 17327916 | [
{
"id": "494",
"type": "title",
"text": [
"Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays."
],
"offsets": [
[
0,
96
]
]
},
{
"id": "495",
"type": "abstract",
"text": [
"BACKGROUND: Neurob... | [] | [] | [] | [] |
End of preview. Expand in Data Studio
Dataset Card for tmVar v1
This dataset contains 500 PubMed articles manually annotated with mutation mentions of various kinds. It can be used for NER tasks only. The dataset is split into train(334) and test(166) splits
Citation Information
@article{wei2013tmvar,
title={tmVar: a text mining approach for extracting sequence variants in biomedical literature},
author={Wei, Chih-Hsuan and Harris, Bethany R and Kao, Hung-Yu and Lu, Zhiyong},
journal={Bioinformatics},
volume={29},
number={11},
pages={1433--1439},
year={2013},
publisher={Oxford University Press}
}
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