Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.I64F
Back to variants list

AGXT

NM_000030.3:p.I64F

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

[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children].

Liao X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020

Protein trafficking defects in inherited kidney diseases.

Schaeffer C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."