Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R1463H
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SCN4A

NM_000334.4:p.R1463H

Associated Papers

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Boßelmann CM et al.

Plos Computational Biology, 2023

36877742 (PubMed )
Supplement: pcbi.1010959.s004.pdf

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Brenes O et al.

Cells, 2021

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-2-jnd-10.3233_jnd-180376.xlsx › Blad1
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