Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.S221del1
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AGXT

NM_000030.3:p.S221del1

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

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.

Deesker LJ et al.

Kidney International Reports, 2022

35812297 (PubMed )
Supplement: mmc1.pdf

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.

Wang M et al.

Human Mutation, 2018

Calcium oxalate crystalluria points to primary hyperoxaluria type 1.

Poloni JA et al.

Kidney International, 2016

A plain abdominal x-ray may direct the diagnosis of primary hyperoxaluria.

Vaisbich MH et al.

Jornal Brasileiro De Nefrologia, 0

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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."