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De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.
Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S. Sandal P, et al. Among authors: li pp. Hum Mol Genet. 2024 Nov 20:ddae166. doi: 10.1093/hmg/ddae166. Online ahead of print. Hum Mol Genet. 2024. PMID: 39565297
412 results