Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.W359G
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KCND3

NM_001378969.1:p.W359G

Associated Papers

Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.

Contaldi E et al.

Cerebellum (london, England), 2024

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

Li M et al.

Frontiers in Molecular Neuroscience, 2022

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.

Hsiao CT et al.

International Journal of Molecular Sciences, 2021

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Zanni G et al.

International Journal of Molecular Sciences, 2021

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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."