Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R317S
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KCNC1

NM_001112741.2:p.R317S

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

Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.

Chi G et al.

Nature Communications, 2022

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.

Li X et al.

Annals of Translational Medicine, 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."