Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis

Congenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous mutation...

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Detalles Bibliográficos
Autores principales: Hou, Cuilan, Zheng, Junmin, liu, Wei, Xie, Lijian, Sun, Xiaomin, Zhang, Yongwei, Xu, Meng, Li, Yun, Xiao, Tingting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266886/
https://www.ncbi.nlm.nih.gov/pubmed/34238994
http://dx.doi.org/10.1038/s41598-021-93736-1

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