Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.N793_E794Splc
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UBR1

NM_174916.3:p.N793_E794Splc

Associated Papers

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."