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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
Edvard Galić1, Petar Bešlić1, Paula Kilić1
11School of Medicine, University of Zagreb, Zagreb, Croatia; 2Sveti Duh University Hospital, Zagreb, Croatia; 3Merkur University Hospital, Zagreb, Croatia.
Congenital long QT syndrome (LQTS) is a myocardial repolarization disorder affecting 1:2000 individuals, potentially causing sudden cardiac death. Early diagnosis and beta-blocker treatment are crucial for managing this genetic condition.
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