Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Abstract
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688...
Paper Details
Title
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Published Date
Jun 19, 2017
Journal
Volume
20
Issue
8
Pages
1043 - 1051
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