Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.P28S
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AGXT

NM_000030.3:p.P28S

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

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

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

M'dimegh S et al.

Annals of Human Genetics, 2017

Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.

M'dimegh S et al.

Transplant Immunology, 2016

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

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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."