Characterization of a Human Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for the Study of Variant Pathogenicity
Abstract
Background— Long-QT syndrome is a potentially fatal condition for which 30% of patients are without a genetically confirmed diagnosis. Rapid identification of causal mutations is thus a priority to avoid at-risk situations that can lead to fatal cardiac events. Massively parallel sequencing technologies are useful for the identification of sequence variants; however, electrophysiological testing of newly identified variants is crucial to...
Paper Details
Title
Characterization of a Human Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for the Study of Variant Pathogenicity
Published Date
Oct 1, 2017
Volume
10
Issue
5
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