Characterization of de novo variants in PPP2R5C expands the spectrum of PP2A-related neurodevelopmental disorders
Iris Verbinnen,Elise Brimble,Lisa Lenaerts,David Genevieve,Laurence Faivre,Julien Thevenon,Jessica X. Chong,Mike Bamshad,Karynne Patterson,Elysa Marco,Dmitriy Niyazov,Aida Telegrafi,Sumit Punj,Kimberly Foss,William Dobyns, Ghaydda Mirzaa,Chin-To Fong,Sue White,Lynn Pais,Emily O'Heir,Celia van der Merwe,Raphaela Itzikowitz,Kirsty Donald,Tony Roscioli, Kerith-Rae Dias,Carey-Anne Evans,Alessandro Mussa, Raffaela Cervini,Elisa Giorgio,Anna Ruiz, Juan Pablo Trujillo Quintero,Rachel Rabin,John Pappas,Xiaodong Wang, J. Wang, Hua Yuan,Maura R. Z. Ruzhnikov,Veerle Janssens EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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