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Predicting changes to INa from missense mutations in human SCN5A

20 Aug 2018

Abstract excerpt

Abstract Mutations in SCN5A can alter the cardiac sodium current INa 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 perform poorly. We investigated if instead we could predict changes to INa, leaving the link from INa to...

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Share to Cardiac electrophysiology and arrhythmias
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PMID: 30143662
DOI: 10.1038/s41598-018-30577-5

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