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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

16 Jul 2019

Abstract excerpt

Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently...

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PMID: 31315195
DOI: 10.3390/jcm8071035

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