Title: UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Authors: Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM
Journal: Am J Hum Genet
Published: 2020-12-16