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

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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Bibliographic Details
Main Authors: Huan Hu, Zilong Geng, Shasha Zhang, Yuejuan Xu, Qingjie Wang, Sun Chen, Bing Zhang, Kun Sun, Yanan Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
atrioventricular septal defect
congenital heart disease
copy number variation
whole exome sequencing
DYRK1A
OBSCN
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1075349/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1075349/full

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