Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.C127F
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UBR1

NM_174916.3:p.C127F

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

Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase.

Muñoz-Escobar J et al.

Structure (london, England : 1993), 2017

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M et al.

Human Mutation, 2014

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