Associated Papers
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Case report: A novel PPP3CA truncating mutation within the regulatory domain causes severe developmental and epileptic encephalopathy in a Chinese patient.
Li J et al.
Frontiers in Neurology, 2022
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S et al.
Clinical Genetics, 2021
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M et al.
European Journal of Human Genetics : Ejhg, 2019
Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.
Qian Y et al.
Cold Spring Harbor Molecular Case Studies, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T et al.
Human Molecular Genetics, 2018
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