Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D2431H
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RYR1

NM_000540.3:p.D2431H

Associated Papers

Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.

Miyoshi H et al.

Genes, 2025

40869992 (PubMed )
Supplement: genes-16-00944-s001.zip › genes-3772861-supplementary.xlsx › S1_RYR1_and_CACNA1S_variants
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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."