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SCN5A (Na(V)1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance
BACKGROUND: Accurately predicting the impact of rare non-synonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac sodium channel SCN5A (Na(v)1.5) are associated with multiple arrhythmia disorders, including Brugada Syndrome (BrS1) and Long QT Syndrome (...
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| Publicado no: | Circ Genom Precis Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5941942/ https://ncbi.nlm.nih.gov/pubmed/29728395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.118.002095 |
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