Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
Fallahi GH et al.
European Journal of Pediatrics, 2011
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