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Genetics of Congenitally Corrected Transposition of the Great Arteries: next generation sequencing shows a mutation load effect for 156 genes involved in cardiac patterning

2023-09-12

Abstract excerpt

Congenital heart disease (CHD) is a major public health issue. It is considered as a major cause of infant mortality today. We focused on a complex and rare CHD, the congenitally corrected transposition of the great arteries (CCTGA). The aim of this study was to identify the genes that control the alignment of cardiac chambers that are abnormal in CCTGA to further understand the mechanism of this CHD. We analyzed...

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Literature Corpus work
d626d263-d4e2-5bd9-8c3f-a43703ebff20
DOI
10.1101/2023.09.11.23293772
Open publication

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Genetics of Congenitally Corrected Transposition of the Great Arteries: next generation sequencing shows a mutation load effect for 156 genes involved in cardiac patterningDOI 10.1101/2023.09.11.23293772
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