Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.R503*
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UBR1

NM_174916.3:p.R503*

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

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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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."