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Re-evaluating pathogenicity of variants associated with the long-QT syndrome

INTRODUCTION: Genetic testing for congenital long-QT syndrome (LQTS) has become common. Recent studies have shown that some variants labelled as pathogenic might be misclassified due to sparse case reports and relatively common allele frequencies in the general population. This study aims to evaluat...

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Bibliographic Details
Published in:J Cardiovasc Electrophysiol
Main Authors: Kaltman, Jonathan R., Evans, Frank, Fu, Yi-Ping
Format: Artigo
Language:Inglês
Published: 2017
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777879/
https://ncbi.nlm.nih.gov/pubmed/28988457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jce.13355
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