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A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect which can arises from different genetic defects. The genetic heterogeneity of this disease leads to restricted success in candidate genes screening method. Emerging approaches such as next‐generation sequencing (NGS)‐based ge...

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Detalles Bibliográficos
Autores principales: Kalayinia, Samira, Maleki, Majid, Mahdavi, Mohammad, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171333/
https://www.ncbi.nlm.nih.gov/pubmed/31867804
http://dx.doi.org/10.1002/jcla.23147

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