Associated Papers
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
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