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 III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G. Biesecker
bioRxiv 2022.06.23.497341; doi: https://doi.org/10.1101/2022.06.23.497341