Exons as units of phenotypic impact for truncating mutations in autism

Abstract excerpt

Autism spectrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genetic and phenotypic heterogeneity 1–4 . Despite recent progress in understanding ASD genetics, the nature of phenotypic heterogeneity across probands remains unclear 5, 6 . Notably, likely gene-disrupting (LGD) de novo mutations affecting the same gene often result in substantially different ASD phenotyp...

Topics

Open a Topic to create a Post that cites this publication.

• Autism Spectrum Disorder
• Autistic Disorder
• Brain
• Child Development Disorders, Pervasive
• Exons
• Genetic Association Studies
• Mutation
• Phenotype

Identifiers and source

Literature Corpus work

5b2eec5e-dac8-5f61-b8a0-0532c32484cb

DOI

10.1101/270850