Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

2021/05/01 by Norine Voisin, Rhonda E. Schnur, Sofia Douzgou +74 · 16 citations
Biochemistry, Genetics and Molecular Biology · #Ubiquitin and proteasome pathways #Genetics and Neurodevelopmental Disorders #Cancer-related gene regulation

paper · pdf · doi:10.1016/j.ajhg.2021.04.001

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