Journal Article
Nabavizadeh, N.; Bressin, A.; Shboul, M.; Moreno Traspas, R.; Chia, P. H.; Bonnard, C.; Szenker-Ravi, E.; Saribas, B.; Beillard, E.; Altunoglu, U. et al.; Hojati, Z.; Drutman, S.; Freier, S.; El-Khateeb, M.; Fathallah, R.; Casanova, J.-L.; Soror, W.; Arafat, A.; Escande-Beillard, N.; Mayer, A.; Reversade, B.: A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. Embo Molecular Medicine
15 (2), Article e16478 (2023)