Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.S591G
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KCNC3

NM_004977.3:p.S591G

Associated Papers

Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of KCNC3.

Reis MC et al.

International Journal of Molecular Sciences, 2024

A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.

Bernhard FP et al.

Frontiers in Cellular Neuroscience, 2024

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

Kv3.3 potassium channels and spinocerebellar ataxia.

Zhang Y et al.

The Journal of Physiology, 2016

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Duarri A et al.

Plos One, 2015

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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."