Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.T910M
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XDH

NM_000379.4:p.T910M

Associated Papers

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

Massimo G et al.

Antioxidants (basel, Switzerland), 2024

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

Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.

Nakamura M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

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

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Jurecka A et al.

Journal of Inherited Metabolic Disease, 2010

Functional characterization of human xanthine oxidase allelic variants.

Kudo M et al.

Pharmacogenetics and Genomics, 2008

Xanthinuria type I: a rare cause of urolithiasis.

Arikyants N et al.

Pediatric Nephrology (berlin, Germany), 2007

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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."