Germline missense variants in FBXW11 differentially affect its subcellular localization and protein interactome
The neurodevelopmental, jaw, eye, and digital syndrome shows high clinical variability and is caused by heterozygous FBXW11 missense variants. FBXW11 encodes an F-box protein containing a WD40 domain that forms a seven-bladed β-propeller. FBXW11 is part of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex, which me...
Debora Tibbe, Robert J. Volbracht, A. Biabani et al.
· Scientific Reports · 0 citations