Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.R300W
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CLCN1

NM_000083.3:p.R300W

Associated Papers

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

Brenes O et al.

Biomedicines, 2023

37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E

Muscle & Nerve, 2005

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M

Human Mutation, 2002

Diseases caused by voltage-gated ion channels.

Fontaine B et al.

Molecular Aspects of Medicine, 1997

Myotonia in ion channel diseases of muscle.

Partanen J et al.

Duodecim; Laaketieteellinen Aikakauskirja, 0

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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."