Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.D553insFs
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XDH

NM_000379.4:p.D553insFs

Associated Papers

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

Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

Gok F et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2003

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.

Sakamoto N et al.

Human Genetics, 2001

XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

Levartovsky D et al.

Kidney International, 2000

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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."