Genetic & Genomic MedicineGenes & DiseasesPeer-reviewed
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…·Nicolas Pottier
The paper evaluates a novel TGFBR2 variant using AI and cell biology to determine its pathogenicity in Loeys-Dietz Syndrome.
DOI 10.1016/j.gendis.2026.102443