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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
B Borchert1, T Lawrenz, C Stellbrink
1Städtisches Klinikum Bielefeld Mitte, Abteilung für Kardiologie und internistische Intensivmedizin, Teutoburger Strasse 50, 33604 Bielefeld, Germany.
Molecular genetic analysis has advanced understanding of inherited long QT syndrome (LQTS) and short QT syndrome (SQTS), which stem from cardiac ion channel defects. This knowledge impacts clinical management of these arrhythmogenic conditions.
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