De Novo Missense Variants in the PP2A Regulatory Subunit PPP2R2B in a Neurodevelopmental Syndrome: Potential Links to Mitochondrial Dynamics and Spinocerebellar Ataxias
Human molecular genetics（2025）
关键词
neurodevelopmental disorders,cerebellar ataxias,protein phosphatase 2A,mitochondrial dynamics,dynamin-related protein 1
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