Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.R1283*
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XDH

NM_000379.4:p.R1283*

Associated Papers

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

Massimo G et al.

Antioxidants (basel, Switzerland), 2024

Hypouricaemia in a patient with hereditary xanthinuria type I.

Maes B et al.

Lancet (london, England), 2024

Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics.

Kuhara T et al.

Iju Case Reports, 2023

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc3.xlsx › A__Coding_mutations_IBD

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.

Peretz H et al.

Jimd Reports, 2020

Xanthinuria type I with a novel mutation of xanthine dehydrogenase.

Tanaka K et al.

The American Journal of the Medical Sciences, 2015

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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."