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

Research output: Contribution to journal › Article › peer-review

73 Scopus citations

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Biochemistry, Genetics and Molecular Biology