Article

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorder

2025-11-25

Abstract excerpt

<title>Abstract</title> <p> Large-scale sequencing has greatly advanced our understanding of the genetic architecture of autism spectrum disorder (ASD). Whole-exome sequencing (WES) in thousands of trios revealed a major role for <italic>de novo</italic> protein-truncating variants (PTVs) in loss-of-function (LoF) intolerant genes and identified dozens of high-confidence ASD genes, many central to neuronal dev...

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Literature Corpus work: b0f9b3b9-311a-5fe5-b838-d4927eab22af
DOI: 10.21203/rs.3.rs-7841641/v1

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