Assessing the clinical significance of a novel rare variant in Loeys-Dietz Syndrome by combining AI-driven modelling and cell biology
Nihad Boukrout, Clément Delage, Thomas Comptdaer, Wendy Arondal, Amine Jemel, Nadia Azabou, Mouna Bousnina, M. Mallouki, Naoual Sabaouni, Rihab Arbi, Salma Kchaou, Haithem Ammar, Saoussen Hantous-Zannad, Houweyda Jilani, Yasmina Elaribi, , Nicolas Pottier
The paper evaluates a novel TGFBR2 variant using AI and cell biology to determine its pathogenicity in Loeys-Dietz Syndrome.
Genes & Diseases · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine