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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Detalles Bibliográficos
Autores principales: Xing, Junyue, Wang, Hongdan, Xie, Yuanyuan, Fan, Taibing, Cui, Cunying, Li, Yanan, Wang, Shuai, Gu, Weiyue, Wang, Chengzeng, Tang, Hao, Liu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199322/
https://www.ncbi.nlm.nih.gov/pubmed/37215497
http://dx.doi.org/10.1515/biol-2022-0593

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