Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.P558S
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CLCN1

NM_000083.3:p.P558S

Associated Papers

Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.

Landouré G et al.

Nature Reviews. Neurology, 2025

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

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K et al.

Brain : a Journal of Neurology, 2022

Genetics and genomic medicine in Mali: challenges and future perspectives.

Landouré G et al.

Molecular Genetics & Genomic Medicine, 2016

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.

Desaphy JF et al.

Experimental Neurology, 2013

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Morrow JM et al.

Neuromuscular Disorders : Nmd, 2013

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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."