ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease

Abstract Background Congenital heart disease (CHD) is the most prevalent congenital anomaly, but its underlying causes are still not fully understood. It is believed that multiple rare genetic mutations may contribute to the development of CHD. Methods In this study, we aimed to identify novel genet...

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Detalhes bibliográficos

Principais autores:	Xiaoxi Luo, Lifeng Liu, Haowei Rong, Xiangyang Liu, Ling Yang, Nan Li, Hongjun Shi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-08-01
coleção:	Genome Medicine
Assuntos:	Congenital heart disease ENU Genetic screen Cardiac contraction Genetic risk
Acesso em linha:	https://doi.org/10.1186/s13073-024-01372-x
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