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Article

Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.

Journal of human genetics - 1 Mar 2020

Sjaarda Calvin P, Wood Shalandra, McNaughton Amy J M, Taylor Sarah, Hudson Melissa L, Liu Xudong, Guerin Andrea, Ayub Muhammad

Abstract excerpt

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneity in presentation, genetic etiology, and clinical outcome. Although numerous ASD susceptibility genes have been described, they only account for a small fraction of the estimated heritability, supporting the need to identify more risk variants. This study reports the whole exome sequencing for 24 simplex families with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31827253
DOI: 10.1038/s10038-019-0707-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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