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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
Mark J McPate1, Harry J Witchel, Jules C Hancox
1Department of Physiology and Cardiovascular Research Laboratories, School of Medical Sciences, University Walk, Bristol BS81TD, UK. Mark.McPate@bristol.ac.uk
Idiopathic short QT syndrome (SQTS) is a genetic disorder causing very short QT intervals, increasing arrhythmia and sudden death risk. Research identifies three genetic forms linked to cardiac potassium channel mutations, guiding treatment strategies.
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