Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility

The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the American College of Medical Genetics and Genomics/Association of Molecular Pathologists (ACMG/AMP) criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classifi...

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Veröffentlicht in:	Human molecular genetics 2022-11, Vol.31 (23), p.4087-4093
Hauptverfasser:	Johnston, Jennifer J, Dirksen, Robert T, Girard, Thierry, Hopkins, Phil M, Kraeva, Natalia, Ognoon, Mungunsukh, Radenbaugh, K Bailey, Riazi, Sheila, Robinson, Rachel L, Saddic Iii, Louis A, Sambuughin, Nyamkhishig, Saxena, Richa, Shepherd, Sarah, Stowell, Kathryn, Weber, James, Yoo, Seeley, Rosenberg, Henry, Biesecker, Leslie G
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetic Testing Genetic Variation - genetics Humans Malignant Hyperthermia - epidemiology Malignant Hyperthermia - genetics Original Ryanodine Receptor Calcium Release Channel - genetics United States Virulence
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