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Autor:
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341
https://doi.org/10.1101/2022.06.23.497341