Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG.
Johnston JJ, et al. Among authors: dirksen rt.
Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25.
Genet Med. 2021.
PMID: 33767344
Free PMC article.