Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.L433R
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SCN4A

NM_000334.4:p.L433R

Associated Papers

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N et al.

Human Molecular Genetics, 2014

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Charles G et al.

Journal of Neurology, 2013

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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."