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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Andrew D Krahn1, Zachary Laksman1, Raymond W Sy2
1Center for Cardiovascular Innovation, Heart Rhythm Services, Division of Cardiology, University of British Columbia, Vancouver, BC, Canada.
Congenital long QT syndrome (LQTS) is a heritable heart condition affecting cardiac repolarization. Diagnosis and management involve clinical, ECG, and genetic factors to prevent sudden cardiac death.
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