Hemizygous Variants in Protein Phosphatase 1 Regulatory Subunit 3F (PPP1R3F) Are Associated with a Neurodevelopmental Disorder Characterized by Developmental Delay, Intellectual Disability and Autistic Features.
HUMAN MOLECULAR GENETICS(2023)
Key words
X-linked,protein phosphatase 1,glycogen metabolism,developmental delay,intellectual disability,seizureautism
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