Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
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DOI: 10.3390/genes14020250
Abstract: CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this… read more here.
Keywords: foreground pathomechanism; csnk2b associated; haploinsufficiency foreground; csnk2b ... See more keywords