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Article

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.

Molecular psychiatry - 1 Jan 2011

Delahanty R J, Kang J Q, Brune C W, Kistner E O, Courchesne E, Cox N J, Cook E H, Macdonald R L, Sutcliffe J S

Abstract excerpt

Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ∼1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation, and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus enc...

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Source

Open in PubMed Open full text

Identifiers

PMID: 19935738
DOI: 10.1038/mp.2009.118
PMCID: PMC3428055

Genes

GABRB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19935738-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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