Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R1448G
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SCN4A

NM_000334.4:p.R1448G

Associated Papers

[Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].

Song J et al.

Zhonghua Nei Ke Za Zhi, 2020

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

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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."