Associated Papers
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
Falsaperla R et al.
Molecular and Cellular Pediatrics, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Fielder SM et al.
Molecular Genetics and Metabolism, 2022
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