Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L13R
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C2

NM_000063.6:p.L13R

Associated Papers

Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.

van den Bersselaar LR et al.

British Journal of Anaesthesia, 2026

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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."