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Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel

BACKGROUND: A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing. Therefore, the purpose of this study was to enhance interpretation of SCN5A nsSNVs for clinical genetic testing using estimated predict...

詳細記述

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書誌詳細
出版年:Circ Cardiovasc Genet
主要な著者: Kapplinger, Jamie D., Giudicessi, John R., Ye, Dan, Tester, David J., Callis, Thomas E., Valdivia, Carmen R., Makielski, Jonathan C., Wilde, Arthur A., Ackerman, Michael J.
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4878676/
https://ncbi.nlm.nih.gov/pubmed/25904541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.114.000831
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