Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E624D
Back to variants list

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."