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Article

Increased burden of deleterious variants in essential genes in autism spectrum disorder.

Proceedings of the National Academy of Sciences of the United States of America - 27 Dec 2016

Ji Xiao, Kember Rachel L, Brown Christopher D, Bućan Maja

Abstract excerpt

Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental syndrome characterized by impaired social interaction, communication, and repetitive behavior. It is estimated that hundreds of genes contribute to ASD. We asked if genes with a strong effect on survival and fitness contribute to ASD risk. Human orthologs of genes with an essential role in pre- and postnatal development in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27956632
DOI: 10.1073/pnas.1613195113
PMCID: PMC5206557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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