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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing
BACKGROUND: Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable. Next‐generation sequencing has remarkable potential for both clinical diagnostics and research of LQTS. Here, we investigated the genetic...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264754/ https://www.ncbi.nlm.nih.gov/pubmed/37324772 http://dx.doi.org/10.1002/joa3.12857 |