Article
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.
Journal of cardiovascular electrophysiology - 1 Jun 2012
Obeyesekere Manoj N, Sy Raymond W, Klein George J, Gula Lorne J, Modi Simon, Conacher Susan, Leong-Sit Peter, Skanes Allan C, Yee Raymond, Krahn Andrew D
Abstract excerpt
INTRODUCTION: Genetic variants represent benign single-nucleotide polymorphisms, disease causing mutations or variants of unknown significance (VUS). Resting, exercise, and recovery QTc intervals have been utilized to detect long-QT syndrome (LQTS) mutations. We sought to provide clinical data that may assist in classifying the presented VUS as disease causing/benign and to determine whether resting and/or...
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