Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.V286E
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CLCN1

NM_000083.3:p.V286E

Associated Papers

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Wang X et al.

Italian Journal of Pediatrics, 2025

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )
Supplement: KCHL_A_2349823_SM7931.docx

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

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.

Meng YX et al.

Medicine, 2022

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.

Wang Q et al.

Frontiers in Neurology, 2022

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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."