Associated Papers
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
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