De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

DOI: https://doi.org/10.1016/j.ajhg.2019.01.003

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Abstract:

(The American Journal of Human Genetics 104, 139–156; January 3, 2019

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