Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.V338A
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KCND3

NM_001378969.1:p.V338A

Associated Papers

A Novel KCND3 Variant in a Korean Family With SCA19.

Ha H et al.

Journal of Clinical Neurology (seoul, Korea), 2022

35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf

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

Li M et al.

Frontiers in Molecular Neuroscience, 2022

Application of next-generation sequencing technologies in Neurology.

Jiang T et al.

Annals of Translational Medicine, 2014

Mutations in KCND3 cause spinocerebellar ataxia type 22.

Lee YC et al.

Annals of Neurology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."