Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment
Kim Rodenburg, Renske T.W. Schellens, Sanne Broekman, Leony Fenwick, Florian A. Winkelaar, Dirk H. Wijn, Galuh D.N. Astuti, Galena Khazeeva, Christian Gillissen, Frans P.M. Cremers, Ronald J.E. Pennings, Theo Peters, Ulrich Zechner, David Rosenkranz, Christian Betz, , Erwin van Wijk
The paper evaluates two USH2A variants using minigene assays and zebrafish models, finding that one variant may be benign and the other not pathogenic.
bioRxiv · Nov 3, 2026 · PreprintGenetics