Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.G429R
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UMPS

NM_000373.4:p.G429R

Associated Papers

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB et al.

Journal of Inherited Metabolic Disease, 2017

Pharmacogenetics of fluoropyrimidine and cisplatin. A future application to gastric cancer treatment.

Shimoyama S

Journal of Gastroenterology and Hepatology, 2009

Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design.

Wittmann JG et al.

Structure (london, England : 1993), 2008

Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen.

Ichikawa W et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Suchi M et al.

American Journal of Human Genetics, 1997

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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."