Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.L703P
Back to variants list

SCN4A

NM_000334.4:p.L703P

Associated Papers

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.

Ke Q et al.

Neuromuscular Disorders : Nmd, 2022

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Desaphy JF et al.

Journal of Neuromuscular Diseases, 2021

The Effects of Neoadjuvant Chemoradiation in Locally Advanced Rectal Cancer-The Impact in Intratumoral Heterogeneity.

Bettoni F et al.

Frontiers in Oncology, 2019

31612112 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

Ørstavik K et al.

Journal of Neuromuscular Diseases, 2015

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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."