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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
Genetics
Molecular Biology
Clinical Biochemistry
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Authors
Priyanka Sandal
,
Chian Jong
Ronald Merrill
,
Grace Kollman
,
Austin Paden
,
Eric Bend
,
Jennifer Sullivan
,
Rebecca Spillmann
,
Vandana Shashi
,
Anneke Silfhout
,
Rolph Pfundt
,
Bert Vries
,
Pan Li
,
Louise Bicknell
+12 authors
,
Stefan Strack
Journal
Carolina Digital Repository (University of North Carolina at Chapel Hill)
Published
Nov 20, 2024
DOI
10.17615/43a6-jz46
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