Preprint

A novel truncating variant c.1222DupC in RBM20 causes cardiomyopathy through haploinsufficiency.
Pant, Priyanka, Huang, Yong, Ghouse, Zakiya, Bai, Fang, Kemmling, Elena, Konrad, Laura, Kistler, Rebecca, Seeger, Timon, Gotthardt, Michael, Parikh, Victoria N. and van den Hoogenhof, Maarten M.G.
medRxiv : 2025.09.16.25335490. 18 September 2025

CAMK2D causes heart failure in RBM20 cardiomyopathy.
van den Hoogenhof, Maarten M.G., Duran, Javier, Britto-Borges, Thiago, Kemmling, Elena, Konrad, Laura, Lennermann, David C., Hartmann, Joshua, Schraft, Laura, Kornienko, Julia, Bock, Theresa, Krüger, Marcus, Dieterich, Christoph, Steinmetz, Lars M., Dewenter, Matthias and Backs, Johannes
bioRxiv : 2025.05.23.655557. 25 May 2025