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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
Angelo Comune1, Valeria Maddaloni2, Daniela Miglio1
1Department of Translational Medical Sciences, Cardiology and Syncope Unit, University of Campania Luigi Vanvitelli, Monaldi Hospital, Naples, Italy.
Short QT syndrome (SQTS) risk stratification is complex, especially with uncertain genetic findings. This case highlights cautious interpretation of noncanonical variants and conservative management for intermediate-risk patients.
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