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{
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{
... |
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{
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"text": "Association between caffeine intake and risk of Parkinson's disease among fast and slow metabolizers.",
"type": "title"
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{
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"text": "INTRODUCTION: Cytochrome... | [
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116,
135
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"text": [
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"type": "Gene"
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{
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{
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{
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"text": "Multiple p... | [
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{
... |
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{
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"text": "A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.",
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{
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"text": "We describe a novel germline mutation of B... | [
{
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{
... |
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{
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{
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4,
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"text": [
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{
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{
... |
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{
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{
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"text": "The chromosomal changes in eight familial BR... | [
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167,
172
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"text": [
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{
"id": "5709",
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{
... |
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{
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"text": "The infevers autoinflammatory mutation online registry: update with new genes and functions.",
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{
"location": {
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"text": "Infevers (Internet Fevers; http://f... | [
{
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362,
366
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"text": [
"MEFV"
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{
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{
... |
[
{
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"text": "CYP2E1 polymorphisms and gene-environment interactions in the risk of upper aerodigestive tract cancers among Indians.",
"type": "title"
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{
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"text": "INTRODU... | [
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"text": [
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{
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{
... |
[
{
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"text": "Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.",
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{
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"text... | [
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73,
78
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"text": [
"POLG1"
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{
"id": "5733",
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{
... |
[
{
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"text": "Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion.",
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{
"location": {
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"text": "Dyslexia is the most common chi... | [
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360,
366
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"text": [
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{
"id": "5744",
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... |
[
{
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"text": "Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.",
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{
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"text": "Mutations in the gene e... | [
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0,
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"text": [
"Granulin"
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"type": "Gene"
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{
"id": "5754",
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{
... |
[
{
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"text": "LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.",
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{
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... | [
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0,
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"text": [
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{
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{
... |
[
{
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"type": "title"
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{
"location": {
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"text": "The mechanism by which the Parkinson's disease-related pro... | [
{
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21,
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"text": [
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{
"id": "5776",
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... |
[
{
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"text": "Polymorphism of the hepatic influx transporter organic anion transporting polypeptide 1B1 is associated with increased cholesterol synthesis rate.",
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{
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20,
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],
"text": [
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"type":... |
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{
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"text": "Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.",
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{
"location": {
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"text": "BACKGROUND: No susceptibility genes have been ident... | [
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32,
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{
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{
... |
[
{
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"text": "Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.",
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{
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... | [
{
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"text": [
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{
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{... |
[
{
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"text": "Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.",
"type": "title"
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{
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... | [
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37,
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"text": [
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{
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... |
[
{
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"text": "Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.",
"type": "title"
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{
"location": {
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"text": "Cystic fibrosis transmembrane conductan... | [
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65,
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"text": [
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{
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{
... |
[
{
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"text": "Alterations of ROBO1/DUTT1 and ROBO2 loci in early dysplastic lesions of head and neck: clinical and prognostic implications.",
"type": "title"
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{
"location": {
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"text": "... | [
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15,
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"text": [
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{
"id": "5874",
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{
... |
[
{
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"text": "Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.",
"type": "title"
},
{
"location": {
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"text": "BACKGROUND: The rol... | [
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98,
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{
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{... |
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{
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"text": "P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?",
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{
"location": {
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"offset": 70
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"text": "The chromosomal region 12q24 has been previously implicate... | [
{
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0,
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"text": [
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{
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{
... |
[
{
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"text": "Growth hormone dose in growth hormone-deficient adults is not associated with IGF-1 gene polymorphisms.",
"type": "title"
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{
"location": {
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"text": "AIMS: Several SNPs and... | [
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0,
14
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"text": [
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"type": "Gene"
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{
"id": "5923",
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... |
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{
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"text": "Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.",
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{
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"offset": 128
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"text": ... | [
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120,
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{... |
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{
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"text": "Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.",
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},
... | [
{
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165,
169
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{
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{
... |
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{
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"text": "SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.",
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{
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{
"id": "5970",
"normalized": [
{
... |
[
{
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"text": "Systematic screening for polymorphisms within the UGT1A6 gene in three Chinese populations and function prediction through structural modeling.",
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{
"location": {
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... | [
{
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50,
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{
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{
... |
[
{
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"text": "Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum.",
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{
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"tex... | [
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0,
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],
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{
"id": "5986",
... |
[
{
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"type": "title"
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{
"location": {
"length": 1911,
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"text": "BACKGROUND: Nephronophthi... | [
{
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25,
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"type": "Gene"
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{
"id": "5995",
"normalized": [
... |
[
{
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"type": "title"
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{
"location": {
"length": 1358,
"offset": 109
},
"text": "Obsessive-Compuls... | [
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16,
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{
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{
... |
[
{
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"offset": 0
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"text": "UVB radiation induces human lens epithelial cell migration via NADPH oxidase-mediated generation of reactive oxygen species and up-regulation of matrix metalloproteinases.",
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},
{
"location": {
"length": ... | [
{
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],
"offsets": [
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857,
870
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],
"text": [... |
[
{
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"text": "A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease.",
"type": "title"
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{
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"t... | [
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"text": [
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{
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"normalized": [
{... |
[
{
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"text": "Single nucleotide polymorphism in ABCG2 is associated with irinotecan-induced severe myelosuppression.",
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{
"location": {
"length": 1226,
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"text": "Irinotecan is an anti-n... | [
{
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"text": [
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{
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"normalized": [
{
... |
[
{
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"text": "Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.",
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{
"location": {
"length": 1162,
"offset": 108
},
"text": "Hypokalaemic perio... | [
{
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"text": [
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{
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{
... |
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