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Title
Whole-genome sequencing in an autism multiplex family
Authors
Keywords
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Journal
Molecular Autism
Volume 4, Issue 1, Pages 8
Publisher
Springer Nature
Online
2013-04-18
DOI
10.1186/2040-2392-4-8
References
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- (2011) Bin Xu et al. NATURE GENETICS
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- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
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