Damaging RBM20 E-rich domain variants are not rescued by gene replacement
Fang Bai, K.Y. Chua, Daniel Yuhang Li, Anna Kirillova, Sunil Yadav, David Staudt, Yuta Yamamoto, Hannah N. De Jong, Linda Helena Müller, Kai Fenzl, Non Rungaramsin, Yong Huang, Chloe M. Reuter, Steven Zhang, Vikki A. Krysov, , Victoria Nicole Parikh
The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.
bioRxiv · Jul 20, 2026 · PreprintGenetics