Associated Papers
Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.
Strych L et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
Hwang CS et al.
Plos One, 2011
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