Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuzniewska B, Szymanska K, Diecke S, Prigione A, Szczaluba K, Szybinska A, Koppolu A, Murcia Pienkowski V, Kosinska J, Wiweger M, Kostrzewa G, Brzozowska M, Domanska-Pakiela D, Jurkiewicz E, Stawinski P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuznicki J, Creamer TP, Ploski R
Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25.
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