Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K225_A226delFs
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AGXT

NM_000030.3:p.K225_A226delFs

Associated Papers

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.

Keskinen T et al.

Journal of Inherited Metabolic Disease, 2026

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Mandrile G et al.

Clinical Kidney Journal, 2025

40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
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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."