Publication
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
Chunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, Justine Rousseau, Ah Jung Heo, Katherine Neas, Brett H. Graham, Jill A. Rosenfeld, Carlos A. Bacino, Matias Wagner, Maren Wenzel, Fuad Al Mutairi, Hamad Al Deiab, Joseph G. Gleeson, Valentina Stanley, Maha S. Zaki, Yong Tae Kwon, Michel R. Leroux, Philippe M. Campeau
The American Journal of Human Genetics, January 2021, Elsevier
DOI: 10.1016/j.ajhg.2020.11.018