Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.A108fs
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APRT

NM_000485.3:p.A108fs

Associated Papers

Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.

Leow EH et al.

International Urology and Nephrology, 2025

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL et al.

European Journal of Human Genetics : Ejhg, 2021

Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

Zaidan M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2014

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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."