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

PURPOSE: As a ClinGen Expert Panel (EP) we set out to adapt the ACMG pathogenicity criteria for classification of RYR1 variants as related to autosomal dominantly-inherited malignant hyperthermia (MH). METHODS: We specified ACMG/AMP criteria for variant classification for RYR1 and MH. Proposed rules...

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Detalles Bibliográficos
Autores principales: Johnston, Jennifer J., Dirksen, Robert T., Girard, Thierry, Gonsalves, Stephen G., Hopkins, Phil M., Riazi, Sheila, Saddic, Louis A., Sambuughin, Nyamkhishig, Saxena, Richa, Stowell, Kathryn, Weber, James, Rosenberg, Henry, Biesecker, Leslie G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263483/
https://www.ncbi.nlm.nih.gov/pubmed/33767344
http://dx.doi.org/10.1038/s41436-021-01125-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263483/
https://www.ncbi.nlm.nih.gov/pubmed/33767344
http://dx.doi.org/10.1038/s41436-021-01125-w

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