Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.V326fs
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AGXT

NM_000030.3:p.V326fs

Associated Papers

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

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

M'dimegh S et al.

Annals of Human Genetics, 2017

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

Isiyel E et al.

Molecular Genetics and Metabolism, 2016

A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.

M'Dimegh S et al.

Journal of Genetics, 2016

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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."