Associated Papers
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.
Zenker M et al.
Endocrinology and Metabolism Clinics of North America, 2006
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M et al.
Nature Genetics, 2005
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