Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.V321E
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CLCN1

NM_000083.3:p.V321E

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

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

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

Wang Q et al.

Frontiers in Neurology, 2022

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.

Hu C et al.

Frontiers in Pediatrics, 2021

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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."