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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca(2+) release from myotubes...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873245/ https://www.ncbi.nlm.nih.gov/pubmed/33564012 http://dx.doi.org/10.1038/s41598-021-82024-7 |