Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Atrioventricular septal defect (AVSD) is a deleterious subtype of congenital heart diseases (CHD) characterized by atrioventricular canal defect. The pathogenic genetic changes of AVSD remain elusive, particularly for copy number variation (CNV), a large segment variation of the genome, which is one...

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Detalles Bibliográficos
Autores principales: Hu, Huan, Geng, Zilong, Zhang, Shasha, Xu, Yuejuan, Wang, Qingjie, Chen, Sun, Zhang, Bing, Sun, Kun, Lu, Yanan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936062/
https://www.ncbi.nlm.nih.gov/pubmed/36816019
http://dx.doi.org/10.3389/fgene.2023.1075349

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936062/
https://www.ncbi.nlm.nih.gov/pubmed/36816019
http://dx.doi.org/10.3389/fgene.2023.1075349

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