Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.H873Y
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CLCN1

NM_000083.3:p.H873Y

Associated Papers

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

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

Li Y et al.

Channels (austin, Tex.), 2022

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

Hu C et al.

Frontiers in Pediatrics, 2021

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Yang X et al.

Channels (austin, Tex.), 2017

Novel chloride channel mutations leading to mild myotonia among Chinese.

Burgunder JM et al.

Neuromuscular Disorders : Nmd, 2008

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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."