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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...
Autores principales: | Hou, Cuilan, Zheng, Junmin, liu, Wei, Xie, Lijian, Sun, Xiaomin, Zhang, Yongwei, Xu, Meng, Li, Yun, Xiao, Tingting |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
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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