Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E232_G233Splc
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CLCN1

NM_000083.3:p.E232_G233Splc

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

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.

Papponen H et al.

Muscle & Nerve, 2008

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