Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E624D
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SCN4A

NM_000334.4:p.E624D

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

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

Wang Q et al.

Frontiers in Neurology, 2022

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Meng YX et al.

Neurological Research, 2016

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