Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.P555S
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XDH

NM_000379.4:p.P555S

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

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

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

A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.

Iguchi A et al.

Cen Case Reports, 2016

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

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."