Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility

Jennifer J. Johnston,Robert T. Dirksen,Thierry Girard,Phil M. Hopkins,Natalia Kraeva,Mungunsukh Ognoon,K. Bailey Radenbaugh,Sheila Riazi,Rachel L. Robinson,Louis A. Saddic,Nyamkhishig Sambuughin,Richa Saxena,Sarah Shepherd,Kathryn Stowell,James Weber,Seeley Yoo,Henry Rosenberg,Leslie G. Biesecker

HUMAN MOLECULAR GENETICS（2022）

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hyperthermia,pathogenicity classifications

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