Genetic & Genomic MedicinemedRxivPreprint
Truncated ASXL3 Alters Chromatin Accessibility and Epigenetic Landscape in Bainbridge-Ropers Syndrome Suggesting a Gain-of-Function Etiology
Nofar Mor, Inna Shomer, Shaul Raviv…·Dan Dominissini
Patient-derived neuronal models and mouse models reveal that truncated ASXL3 drive epigenetic dysregulation through a gain-of-function mechanism.