Articles with "kcnd3 loss" as a keyword



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Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22

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Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.919199

Abstract: Spinocerebellar ataxia 19/22 (SCA19/22) is a rare neurodegenerative disorder caused by mutations of the KCND3 gene, which encodes the Kv4. 3 protein. Currently, only 22 KCND3 single-nucleotide mutation sites of SCA19/22 have been reported worldwide,… read more here.

Keywords: sca19 rare; loss function; rare kcnd3; kcnd3 loss ... See more keywords