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Image Search Results
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Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Article Title: Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility
doi: 10.1038/s41436-021-01125-w
Figure Lengend Snippet: Modified ACMG criteria suggested for autosomal dominantly inherited RYR1/MH.
Article Snippet: When gnomAD popmax MAF is >0.00006, case points can be counted and compared to alleles in the gnomAD population with the highest MAF by calculating an odds ratio (OR, MedCalcs online calculator (
Techniques: Modification, Variant Assay, Functional Assay, Knock-In, Ex Vivo, Residue, In Vitro, Sequencing