Article

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility

2020-11-29

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Prevention of malignant hyperthermia (MH) requires an understanding of RYR1 variant pathogenicity to assess the risk of exposure to triggering agents. Personalized medicine, especially secondary findings and eventually genomic screening, will contribute toward this goal. <h4>Methods</h4> We specified ACMG/AMP criteria for variant interpretation for RYR1 and MH. Proposed rul...

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Literature Corpus work: 175be44f-03a8-53cc-821c-1c7a49b461f2
DOI: 10.1101/2020.11.29.402768

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