UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
| Autor: | Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren, Al Mutairi, Fuad, Al Deiab, Hamad, Gleeson, Joseph G., Stanley, Valentina, Zaki, Maha S., Kwon, Yong Tae, Leroux, Michel R., Campeau, Philippe M. |
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| Zdroj: | In The American Journal of Human Genetics 7 January 2021 108(1):134-147 |
| Databáze: | ScienceDirect |
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