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Journal article

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

Abstract:

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 kilobases to megabases, suggesting that 1% of individuals with ASDs may have the...

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Publication status:
Published

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Publisher copy:
10.1038/ejhg.2009.47

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
European journal of human genetics : EJHG
Volume:
17
Issue:
10
Pages:
1347-1353
Publication date:
2009-10-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:3fc37a36-bea3-4f91-a552-872523b20f58
Source identifiers:
34696
Local pid:
pubs:34696

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