Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.C1318Y
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XDH

NM_000379.4:p.C1318Y

Associated Papers

Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.

Massimo G et al.

Antioxidants (basel, Switzerland), 2024

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.

Park SK et al.

Scandinavian Journal of Gastroenterology, 2016

Xanthinuria type I with a novel mutation of xanthine dehydrogenase.

Tanaka K et al.

The American Journal of the Medical Sciences, 2015

Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.

Ichida K et al.

International Journal of Molecular Sciences, 2012

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

Stiburkova B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Kinetics of 6-thioxanthine metabolism by allelic variants of xanthine oxidase.

Kudo M et al.

Drug Metabolism and Pharmacokinetics, 2010

Functional characterization of human xanthine oxidase allelic variants.

Kudo M et al.

Pharmacogenetics and Genomics, 2008

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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."