Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S189F
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CLCN1

NM_000083.3:p.S189F

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

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Ulzi G et al.

Molecular Biology Reports, 2014

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N et al.

Neuromuscular Disorders : Nmd, 2009

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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."