1. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing. Issue 2 (18th January 2023) Authors: Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Moreno Traspas, Ricardo; Chia, Poh Hui; Bonnard, Carine; Szenker‐Ravi, Emmanuelle; Sarıbaş, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El‐Khateeb, Mohammad; Fathallah, Rajaa; Casanova... Journal: EMBO molecular medicine Issue: Volume 15:Issue 2(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗