Associated Papers
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S et al.
Clinical Genetics, 2021
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.
Yang S et al.
Bmc Pediatrics, 2020
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T et al.
Human Molecular Genetics, 2018
Select a paper to view details