Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.S216L
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SCN4A

NM_000334.4:p.S216L

Associated Papers

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?

Gosselin-Badaroudine P et al.

Channels (austin, Tex.), 2014

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