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Material Type: Outros
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Characterization of de novo variants in PPP2R5C expands the spectrum of PP2A-related neurodevelopmental disordersVerbinnen, Iris ; Brimble, E ; Lenaerts, Lisa ; Geneviève, David ; Faivre, Laurence ; Thevenon, J ; Chong, JX ; Bamshad, MJ ; Patterson, K ; Marco, EJ ; Niyazov, DM ; Telegrafi, A ; Punj, S ; Foss, K ; Dobyns, WB ; Mirzaa, Ghayda ; Fong, C ; White, S ; Pais, LS ; O'Heir, Emily ; van der Merwe, C ; Itzikowitz, R ; Donald, K ; Roscioli, T ; Dias, KR ; Evans, CA ; Mussa, A ; Cervini, R ; Giorgio, E ; Ruiz Nel, A ; Rabin, R ; Pappas, J ; Wang, XD ; Wang, J ; Yuan, H ; Ruzhnikov, MRZ ; Janssens, VeerleSPRINGERNATURE 2022Texto completo disponível |