Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.R360W
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AGXT

NM_000030.3:p.R360W

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

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Hashmi JA et al.

Nephrology (carlton, Vic.), 2025

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.

Metry EL et al.

Kidney International Reports, 2023

37849991 (PubMed )
Supplement: mmc1.pdf

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

Murad H et al.

Bmc Medical Genomics, 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."