Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S189C
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CLCN1

NM_000083.3:p.S189C

Associated Papers

ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.

Brenes O et al.

Biomedicines, 2023

Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia.

Kim A et al.

Journal of Movement Disorders, 2018

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.

Ha K et al.

Molecules and Cells, 2014

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A et al.

Muscle & Nerve, 2010

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS et al.

Journal of Korean Medical Science, 2009

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

Estévez R et al.

Neuron, 2003

Residues lining the inner pore vestibule of human muscle chloride channels.

Fahlke C et al.

The Journal of Biological Chemistry, 2001

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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."