Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.F1290L
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SCN4A

NM_000334.4:p.F1290L

Associated Papers

Improving genetic diagnostics of skeletal muscle channelopathies.

Vivekanandam V et al.

Expert Review of Molecular Diagnostics, 2020

Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies.

Sun J et al.

Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2020

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Zhao C et al.

Plos One, 2020

Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.

Luo S et al.

Bmc Neurology, 2019

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Morales F et al.

Frontiers in Neurology, 2019

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

Kato H et al.

Journal of the Neurological Sciences, 2016

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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."