Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E572A
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RYR1

NM_000540.3:p.E572A

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

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_
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