Biblio
2020
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJung, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, et al. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2020.