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Article

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

Genome medicine - 12 Aug 2024

Luo Xiaoxi, Liu Lifeng, Rong Haowei, Liu Xiangyang, Yang Ling, Li Nan, Shi Hongjun

Abstract excerpt

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 genetic risk factors for CHD using an ENU-based dominant genetic screen in mice. We analyzed fetuses with malformed hearts and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39135118
DOI: 10.1186/s13073-024-01372-x
PMCID: PMC11318149

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