Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.K722*
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XDH

NM_000379.4:p.K722*

Associated Papers

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

Massimo G et al.

Antioxidants (basel, Switzerland), 2024

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.

Peretz H et al.

Biomedicines, 2021

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

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

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

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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."