De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald S. Petrey, Chin To Fong, Katrina M. Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey Innis, Jane Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

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Biochemistry, Genetics and Molecular Biology