Skip to Main Content

Paper Details

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Genet Med
39
2021
BP4, MH, PM1, PM1 hotspot, PP3, REVEL, RYR1, RYR1 variants, malignant hyperthermia
Author NameAffiliation
Jennifer J JohnstonNational Human Genome Research Institute, National Institutes of Health
Jennifer J JohnstonNational Human Genome Research Institute, National Institutes of Health
Richa SaxenaMassachusetts General Hospital, Harvard Medical School
Richa SaxenaMassachusetts General Hospital, Harvard Medical School
Henry Rosenberg
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
  • 1 - 9

Datasets

Release 1.2