Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.V445L
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SCN4A

NM_000334.4:p.V445L

Associated Papers

The spectrum of neuromuscular diseases with tubular aggregates.

Rashed HR et al.

Neuromuscular Disorders : Nmd, 2025

Genetic defects are common in myopathies with tubular aggregates.

Gang Q et al.

Annals of Clinical and Translational Neurology, 2022

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N et al.

Journal of Neurology, 2021

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Babić Božović I et al.

Plos One, 2021

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Maggi L et al.

Frontiers in Neurology, 2020

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Maggi L et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2015

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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."