All five clinically phenotyped PPP2R2B variants showed highly significant impairments in this in situ PP2A holoenzyme incorporation assay, with the R149P substitution reducing binding to the levels of the RR168EE negative control ( Fig. 1C ).
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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.
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