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Article

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

American journal of human genetics - 3 Jun 2021

Abstract excerpt

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of...

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Identifiers

PMID: 33932343
DOI: 10.1016/j.ajhg.2021.04.009
PMCID: PMC8206159

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