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Pathogenicity Assessment of Seven RYR1 Variants in Patients with Confirmed Susceptibility to Malignant Hyperthermia in the Netherlands

Luuk R. van den Bersselaar,Anja H. Schiemann,Chu-Ya Yang,Nicol C. Voermans,Ignacio Malagon, Gert-Jan Scheffer, Andrew R. Bjorksten,Robyn Gillies,Anna Hellblom,Erik-Jan Kamsteeg,Marc M.J. Snoeck,Kathryn M. Stowell

British Journal of Anaesthesia（2025）

引用 0|浏览3
关键词
adverse events,calcium,malignant hyperthermia,next-generation sequencing,presymptomatic diagnosis,ryanodine receptor-1
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