Amino acid–level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Cardiology and Cardiovascular Medicine
Reference25 articles.
1. Role of genetic testing for sudden death predisposing heart conditions in athletes;Landstrom,2011
2. Prevalence of the congenital Long-QT syndrome;Schwartz;Circulation,2009
3. Long QT syndrome: novel insights into the mechanisms of cardiac arrhythmias;Kass;J Clin Invest,2003
4. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias;Wang;Nat Genet,1996
5. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome;Curran;Cell,1995
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