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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

AMERICAN JOURNAL OF HUMAN GENETICS（2021）

引用 18|浏览60
关键词
UBR5,ubr-5,UBR7,ubr-7,epilepsy,ptosis,hypothyroidism,kat6b,Notch,epigenetic
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