Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.L287I
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CLCN1

NM_000083.3:p.L287I

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

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ et al.

Pediatric Neurology, 2010

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