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Article

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

European journal of human genetics : EJHG - 1 Jul 2013

Piton Amélie, Jouan Loubna, Rochefort Daniel, Dobrzeniecka Sylvia, Lachapelle Karine, Dion Patrick A, Gauthier Julie, Rouleau Guy A

Abstract excerpt

A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. For this purpose, we used complementary in silico...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23169495
DOI: 10.1038/ejhg.2012.243
PMCID: PMC3722945

Genes

GABRA3
GABRQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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