Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E463_K464insFs
Back to variants list

SCN4A

NM_000334.4:p.E463_K464insFs

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

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

Meng YX et al.

Medicine, 2022

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

Hu C et al.

Frontiers in Pediatrics, 2021

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

Meng YX et al.

Neurological Research, 2016

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."