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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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... | [] | [] | [] |
438 | 17868390 | [
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444 | 17635946 | [
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... | [] | [] | [] |
450 | 17634480 | [
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456 | 17628794 | [
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459 | 17615540 | [
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... | [] | [] | [] |
465 | 17595233 | [
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[
2286,
2291... | [] | [] | [] |
470 | 17495183 | [
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{
"id": "481",
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... | [] | [] | [] |
482 | 17437275 | [
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{
"id": "484",
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"text": [
... | [] | [] | [] | [] |
485 | 17426470 | [
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"id": "486",
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{
"id": "487",
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488 | 17372760 | [
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"id": "491",
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{
"id": "492",
"type": "a... | [
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"id": "490",
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"offsets": [
[
1140,
114... | [] | [] | [] |
493 | 17327916 | [
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"id": "494",
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{
"id": "495",
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496 | 17311329 | [
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"id": "497",
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{
"id": "498",
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"Two Epstein Barr virus (EBV) genotypes: E... | [] | [] | [] | [] |
499 | 17286451 | [
{
"id": "500",
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{
"id": "501",
"type": "abstract",
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"OBJECTIVES: This study... | [] | [] | [] | [] |
502 | 17221831 | [
{
"id": "507",
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{
"id": "508",
"type": "abstract",
"text":... | [
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{
"id": "504",
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"offsets": [
[
703,
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],... | [] | [] | [] |
509 | 17185385 | [
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"id": "510",
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{
"id": "511",
"type": "abstract",
"text": [
"Unusual forms of amyotrophic latera... | [] | [] | [] | [] |
512 | 17177139 | [
{
"id": "520",
"type": "title",
"text": [
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{
"id": "521",
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"id": "514",
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"E333D"
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"offsets": [
[
497,
502
... | [] | [] | [] |
522 | 17065479 | [
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"id": "523",
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{
"id": "524",
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525 | 17065190 | [
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"id": "534",
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{
... | [
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... | [] | [] | [] |
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