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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
Fiorenzo Gaita1, Carla Giustetto1, Andrea Mazzanti1
1Cardiology Department, Division of Cardiology, Cardinal Massaia Hospital, C.so Dante, 202, Asti 14100, Italy; Division of Cardiology, University of Turin, San Giovanni Battista Hospital, C.so Bramante, 88/90, Turin 10126, Italy.
Short QT syndrome (SQTS) is a genetic heart disorder causing dangerous arrhythmias and sudden death. Current treatment involves defibrillator implantation, but hydroquinidine may help in specific patient groups.
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