Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.V321L
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CLCN1

NM_000083.3:p.V321L

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

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

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D et al.

Brain : a Journal of Neurology, 2007

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