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

Abstract 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...

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Bibliographic Details
Main Authors: Cuilan Hou, Junmin Zheng, Wei liu, Lijian Xie, Xiaomin Sun, Yongwei Zhang, Meng Xu, Yun Li, Tingting Xiao
Format: Article
Language:English
Published: Nature Publishing Group 2021-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-93736-1