Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Sukalo M et al.
Molecular Genetics & Genomic Medicine, 2017
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Select a paper to view details