Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pınar Bayrak‐Toydemir, Gary Rex Nelson, Kristen Nicole Wong, , 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.
medRxiv · Jan 14, 2024 · PreprintGenetic & Genomic Medicine