Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.I2358T
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RYR1

NM_000540.3:p.I2358T

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

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Hoppe K et al.

Scientific Reports, 2021

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