Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing

Pulmonary atresia (PA) is a severe cyanotic congenital heart disease. Although some genetic mutations have been described to be associated with PA, the knowledge of pathogenesis is insufficient. The aim of this research was to use whole-exome sequencing (WES) to determine novel rare genetic variants...

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Bibliographic Details
Main Authors: Xing Junyue, Wang Hongdan, Xie Yuanyuan, Fan Taibing, Cui Cunying, Li Yanan, Wang Shuai, Gu Weiyue, Wang Chengzeng, Tang Hao, Liu Lin
Format: Article
Language:English
Published: De Gruyter 2023-05-01
Series:Open Life Sciences
Subjects:
pulmonary atresia
whole-exome sequencing
rare variants
genetics
Online Access:https://doi.org/10.1515/biol-2022-0593

Internet

https://doi.org/10.1515/biol-2022-0593

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