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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...

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Detalles Bibliográficos
Autores principales: Fazelifar, Amir Farjam, Pourirahim, Maryam, Masoumi, Tannaz, Biglari, Alireza, Maleki, Majid, Kalayinia, Samira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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