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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017

Tarailo-Graovac Maja, Zhu Jing Yun Alice, Matthews Allison, van Karnebeek Clara D M, Wasserman Wyeth W

Abstract excerpt

PurposeWe analyzed the Exome Aggregation Consortium (ExAC) data set for the presence of individuals with pathogenic genotypes implicated in Mendelian pediatric disorders.MethodsClinVar likely/pathogenic variants supported by at least one peer-reviewed publication were assessed within the ExAC database to identify individuals expected to exhibit a childhood disorder based on concordance with disease inheritance...

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Identifiers

PMID: 28471432
DOI: 10.1038/gim.2017.50
PMCID: PMC5729344

Genes

FGFR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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