Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.R366H
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KCNC3

NM_004977.3:p.R366H

Associated Papers

Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.

Faulkner IE et al.

Frontiers in Cellular Neuroscience, 2024

Kv3.3 potassium channels and spinocerebellar ataxia.

Zhang Y et al.

The Journal of Physiology, 2016

Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.

Zhao J et al.

The Biochemical Journal, 2013

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

Figueroa KP et al.

Human Mutation, 2010

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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."