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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Bibliografiske detaljer

Principais autores:	Xing Junyue, Wang Hongdan, Xie Yuanyuan, Fan Taibing, Cui Cunying, Li Yanan, Wang Shuai, Gu Weiyue, Wang Chengzeng, Tang Hao, Liu Lin
Format:	Artigo
Sprog:	Inglês
Udgivet:	De Gruyter 2023-05-01
Serier:	Open Life Sciences
Fag:	pulmonary atresia whole-exome sequencing rare variants genetics
Online adgang:	https://doi.org/10.1515/biol-2022-0593
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