Publications

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries & David-Alexandre Trégouët.

npj Genomic Medicine 2023; volume 8: 32 https://www.nature.com/articles/s41525-023-00378-5