Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.R27Splc
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APRT

NM_000485.3:p.R27Splc

Associated Papers

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

Leow EH et al.

International Urology and Nephrology, 2025

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL et al.

European Journal of Human Genetics : Ejhg, 2021

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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."