Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.V563I
Back to variants list

CLCN1

NM_000083.3:p.V563I

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

Myotonia congenita: novel mutations in CLCN1 gene.

Liu XL et al.

Channels (austin, Tex.), 2015

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA et al.

Genetika, 2012

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

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.

Gao F et al.

Neurology India, 0

Myotonia in ion channel diseases of muscle.

Partanen J et al.

Duodecim; Laaketieteellinen Aikakauskirja, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."