Int J Biol Macromol. 2024 Feb;258(Pt 1):128570.doi: 10.1016/j.ijbiomac.2023.128570. Epub 2023 Dec 12. (IF:8.2).
2024-02-07Int J Biol Macromol. 2024 Feb;258(Pt 1):128570.doi: 10.1016/j.ijbiomac.2023.128570. Epub 2023 Dec 12. Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation (IF:8.2. CTNNB1 C末端的移码变异通过AXIN1介导的泛素-蛋白酶体降解缩合引起家族性渗出性玻璃体视网膜病变