GeneticsHuman Molecular GeneticsPeer-reviewed
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…·Leslie G. Biesecker
The paper updates ACMG/AMP criteria for RYR1-related MHS and classifies 251 variants, finding that many VUS classifications lack sufficient evidence and suggesting functional studies are needed.
60 citationstop 2%