Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip M. Hopkins, Sheila Riazi, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Kathryn M. Stowell, James L. Weber, Henry Rosenberg, Leslie G. Biesecker
Topics & Concepts
RYR1Medical geneticsComputational biologyGenomicsPathogenicityMalignant hyperthermiaMolecular pathologyGeneticsMedicineBioinformaticsBiologyPathologyGenomeGeneRyanodine receptorMicrobiologyIntracellularIon channel regulation and functionGenomics and Rare DiseasesHearing, Cochlea, Tinnitus, Genetics