Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.G42insFs
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AGXT

NM_000030.3:p.G42insFs

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

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

Naguib S et al.

Genetic Testing and Molecular Biomarkers, 2024

Clinical and molecular characterization of primary hyperoxaluria in Egypt.

Soliman NA et al.

Scientific Reports, 2022

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 spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.

Soliman NA et al.

Nephrologie & Therapeutique, 2017

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Hopp K et al.

Journal of the American Society of Nephrology : Jasn, 2015

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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."