Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.L97fs
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APRT

NM_000485.3:p.L97fs

Associated Papers

Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.

Cogal AG et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2025

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

Leow EH et al.

International Urology and Nephrology, 2025

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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."