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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

Priyanka Sandal,Chian Ju Jong,Ronald A. Merrill, Grace J. Kollman, Austin H. Paden, Eric G. Bend,Jennifer Sullivan,Rebecca C. Spillmann,Vandana Shashi,Anneke T. Vulto-van Silfhout,Rolph Pfundt,Bert B. A. de Vries, Pan P. Li,Louise S. Bicknell,Stefan Strack

Human molecular genetics（2025）

Cited 0|Views3
Key words
neurodevelopmental disorders,cerebellar ataxias,protein phosphatase 2A,mitochondrial dynamics,dynamin-related protein 1
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