Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

PURPOSE: We analyzed the Exome Aggregation Consortium (ExAC) data set for the presence of individuals with pathogenic genotypes implicated in Mendelian pediatric disorders. METHODS: ClinVar likely/pathogenic variants supported by at least one peer-reviewed publication were assessed within the ExAC d...

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Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: Tarailo-Graovac, Maja, Zhu, Jing Yun Alice, Matthews, Allison, van Karnebeek, Clara D M, Wasserman, Wyeth W
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
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Original Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729344/
https://ncbi.nlm.nih.gov/pubmed/28471432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.50
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