De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
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Title
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
Authors
Keywords
<em class=EmphasisTypeItalic >PPP2R5D</em>, Intellectual disabilities, Whole-exome sequencing, De novo mutations, Protein phosphatase, Autism spectrum disorder
Journal
NEUROGENETICS
Volume 17, Issue 1, Pages 43-49
Publisher
Springer Nature
Online
2015-11-17
DOI
10.1007/s10048-015-0466-9
References
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