Genetic & Genomic MedicinemedRxivPreprint
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond
The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.