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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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Publicat a:J Cardiovasc Electrophysiol
Autors principals: Kaltman, Jonathan R., Evans, Frank, Fu, Yi-Ping
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia: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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