Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder
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DOI: 10.3389/fped.2021.755344
Abstract: Objective: Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. “Complete or partial loss of function (LoF),” “dominant-negative (DN) effect” are applied to describe KCNB1 variant's… read more here.
Keywords: kcnb1 related; neurodevelopmental disorder; effect; related neurodevelopmental ... See more keywords