Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.R333*
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AGXT

NM_000030.3:p.R333*

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

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Zhu X et al.

Kidney Diseases (basel, Switzerland), 2024

39131880 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.pdf

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Wu J et al.

Urolithiasis, 2023

Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.

Ben-Moshe Y et al.

Kidney International Reports, 2023

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

Murad H et al.

Bmc Medical Genomics, 2021

Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.

Zhao F et al.

Urolithiasis, 2021

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Lu X et al.

Frontiers in Pharmacology, 2019

Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.

Du DF et al.

Current Medical Science, 2018

Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.

Wang C et al.

Scientific Reports, 2016

Predictive factors of oxaliplatin neurotoxicity: the involvement of the oxalate outcome pathway.

Gamelin L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

Rinat C et al.

Journal of the American Society of Nephrology : Jasn, 1999

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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."