Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
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DOI: 10.1016/j.ajhg.2021.06.003
Abstract: The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and transporters. Loss-of-function variants in all five endosomal/lysosomal members of the CLC family of… read more here.
Keywords: neurodevelopmental disorders; exchanger; clcn3 encoding; variants clcn3 ... See more keywords