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Article

Evolutionary Action of <i>de novo</i> Missense Variants across Pathways Prioritizes Genes Linked to Autism and Predicts Patient Phenotypic Severity

2017-06-30

Abstract excerpt

The pathogenicity of individual de novo missense mutations in autism spectrum disorder remains difficult to validate. Here we asked in 2,384 probands whether these variants exhibited collective functional impact biases across pathways. As measured with Evolutionary Action (EA) in 368 gene groupings, we found significant biases in axonogenesis, synaptic transmission, and other neurodevelopmental pathways. Striking...

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Identifiers and source

Literature Corpus work
029e8558-eca6-5764-8273-08224380afd3
DOI
10.1101/158329
Open publication

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Evolutionary Action of <i>de novo</i> Missense Variants across Pathways Prioritizes Genes Linked to Autism and Predicts Patient Phenotypic SeverityDOI 10.1101/158329
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