Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
Abstract 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 Ca2+ release from m...
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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2021
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| Accès en ligne: | https://doaj.org/article/dc483e7be68a43b397567e7004957a46 |
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