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Article

Contribution of SHANK3 mutations to autism spectrum disorder.

American journal of human genetics - 1 Dec 2007

Moessner Rainald, Marshall Christian R, Sutcliffe James S, Skaug Jennifer, Pinto Dalila, Vincent John, Zwaigenbaum Lonnie, Fernandez Bridget, Roberts Wendy, Szatmari Peter, Scherer Stephen W

Abstract excerpt

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17999366
DOI: 10.1086/522590
PMCID: PMC2276348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17999366-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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