Article

Using Drosophila to model a variant of unknown significance in the human cardiogenic gene <i>Nkx2.5</i>

2023-06-30

Abstract excerpt

Sequencing of human genome samples has unearthed genetic variants for which functional testing is necessary to validate their clinical significance. We used the Drosophila system to analyze a variant of unknown significance in the human congenital heart disease gene, Nkx2 . 5 . We generated an R321N allele of the Nkx2 . 5 ortholog tinman ( tin ) to model a human K158N variant and tested its function in vitro...

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Literature Corpus work: 9f3c73f7-9428-5641-8b9a-7bec949b4f99
DOI: 10.1101/2023.06.28.546937

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