Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.Y66*
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AGXT

NM_000030.3:p.Y66*

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

Concomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.

Braekman E et al.

Kidney International Reports, 2025

39990885 (PubMed )
Supplement: mmc1.pdf

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

Murad H et al.

Bmc Medical Genomics, 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

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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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."