Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.S81*
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AGXT

NM_000030.3:p.S81*

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

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

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

A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.

Li X et al.

The Tohoku Journal of Experimental Medicine, 2018

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

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

Li GM et al.

Bmc Nephrology, 2014

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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."