Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing

Pulmonary atresia (PA) is a rare congenital heart defect (CHD) with complex manifestations and a high mortality rate. Since the genetic determinants in the pathogenesis of PA remain elusive, a thorough identification of the genetic factors through whole exome sequencing (WES) will provide novel insi...

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Detalles Bibliográficos
Autores principales: Shi, Xin, Zhang, Li, Bai, Kai, Xie, Huilin, Shi, Tieliu, Zhang, Ruilin, Fu, Qihua, Chen, Sun, Lu, Yanan, Yu, Yu, Sun, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044470/
https://www.ncbi.nlm.nih.gov/pubmed/32128068
http://dx.doi.org/10.1016/j.csbj.2020.01.011

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