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Predicting changes to I(Na) from missense mutations in human SCN5A
Mutations in SCN5A can alter the cardiac sodium current I(Na) and increase the risk of potentially lethal conditions such as Brugada and long-QT syndromes. The relation between mutations and their clinical phenotypes is complex, and systems to predict clinical severity of unclassified SCN5A variants...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6109095/ https://ncbi.nlm.nih.gov/pubmed/30143662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-30577-5 |
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