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Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

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 (also known as NKX2-5). We...

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Detalles Bibliográficos
Autores principales:	Lovato, TyAnna L., Blotz, Brenna, Bileckyj, Cayleen, Johnston, Christopher A., Cripps, Richard M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists Ltd 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548113/ https://www.ncbi.nlm.nih.gov/pubmed/37691628 http://dx.doi.org/10.1242/dmm.050059

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