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*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology