Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G2446S
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RYR1

NM_000540.3:p.G2446S

Associated Papers

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Matthews E et al.

Neurology, 2018

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."