Stem cell researchHumansProto-Oncogene Proteins B-rafInduced Pluripotent Stem CellsMaleAdult
Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.
Thomas A Bos, Elizaveta Polyakova, Marco C DeRuiter, Emile Nühn, Monique R M Jongbloed
Published: 202610.1016/j.scr.2025.103877
Abstract
Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, par…
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