Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.N72I
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AGXT

NM_000030.3:p.N72I

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

Clinical analysis of 13 children with primary hyperoxaluria type 1.

Lin JA et al.

Urolithiasis, 2021

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

Xu CB et al.

Bmc Nephrology, 2021

33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1

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

Zhao F et al.

Urolithiasis, 2021

Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.

Cai R et al.

Bmc Nephrology, 2019

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

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

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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."