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Article

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

European journal of human genetics : EJHG - 1 Oct 2009

Sykes Nuala H, Toma Claudio, Wilson Natalie, Volpi Emanuela V, Sousa Inês, Pagnamenta Alistair T, Tancredi Raffaella, Battaglia Agatino, Maestrini Elena, Bailey Anthony J, Monaco Anthony P

Abstract excerpt

SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone. SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of individuals with autism. In individuals with autism spectrum disorders (ASDs), several studies have found SHANK3 to be disrupted by deletions ranging from hundreds of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19384346
DOI: 10.1038/ejhg.2009.47
PMCID: PMC2752466

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