De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.12.002
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January 1, 2019
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Elsevier BV