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V. Shumatov

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Aug 2026

Malignant hyperthermia associated with a variant of uncertain significance c.12146A>C (p.Glu4049Ala) in the RYR1 gene: a case report

The authors present successful management of malignant hyperthermia crisis with CGS score 53. Molecular genetic analysis revealed a previously unreported variant c.12146A>C (p.Glu4049Ala) in the RYR1 gene that was initially classified as a variant of uncertain significance. This variant is absent in major databases (Cl...

P. Dunts, V. Shumatov, M. A. Vykhrestyuk et al. · 0 citations

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