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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-07-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-021-93736-1 |