Article
Exons as units of phenotypic impact for truncating mutations in autism.
Molecular psychiatry - 1 May 2021
Chiang Andrew H, Chang Jonathan, Wang Jiayao, Vitkup Dennis
Abstract excerpt
Autism spectrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genetic and phenotypic heterogeneity. Despite recent progress in understanding ASD genetics, the nature of phenotypic heterogeneity across probands remains unclear. Notably, likely gene-disrupting (LGD) de novo mutations affecting the same gene often result in substantially different ASD phenotypes....
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