Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.R96G
Back to variants list

UMPS

NM_000373.4:p.R96G

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

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."