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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Detalhes bibliográficos
Publicado no:Circ Cardiovasc Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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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