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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...

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Detaylı Bibliyografya
Yayımlandı:Circ Cardiovasc Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Online Erişim: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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