Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.V245A
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UBC

NM_021009.7:p.V245A

Associated Papers

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Garbade SF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Fission yeast Dma1 requires RING domain dimerization for its ubiquitin ligase activity and mitotic checkpoint function.

Johnson AE et al.

The Journal of Biological Chemistry, 2012

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Blau N et al.

Molecular Genetics and Metabolism, 2004

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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."