GeneticsGenetics in MedicinePeer-reviewed
Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility
Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard…·Leslie G. Biesecker
The paper develops and validates ACMG/AMP criteria for assessing RYR1 variant pathogenicity in malignant hyperthermia, using quantitative calibration and expert panel evaluation.
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