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eNauka >  Results >  Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
Title: Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
Authors: Tarailo-Graovac, Maja; Zhu, Jing Yun Alice; Matthews, Allison; van, Karnebeek Clara DM; Wasserman, Wyeth W
Issue Date: 2017
Publication: GENETICS IN MEDICINE
ISSN: 1098-3600 Genetics in Medicine Search Idenfier
Type: Article
Collation: vol. 19 br. 12 str. 1300-1308
DOI: 10.1038/gim.2017.50
WoS-ID: 000419856500003
Scopus-ID: 2-s2.0-85042386787
PMID: 28471432
PMCID: PMC5729344
URI: https://enauka.gov.rs/handle/123456789/813052
Project: Genome Canada Bioinformatics and Computational Biology [255ONT]
Canadian Institutes of Health Research (CIHR): Bioinformatics and Computational Biology [BOP-149430]
BC Children's Hospital Foundation (Treatable Intellectual Disability Endeavour in Britis
Metadata source: (Preuzeto iz Nasi u WoS)
M-category: 
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