Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.S239_F240del1
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AGXT

NM_000030.3:p.S239_F240del1

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

[Type 1 primary hyperoxaluria: From childhood to adult, how to manage adequately medical therapy compliance?]

Leflot M et al.

Nephrologie & Therapeutique, 2018

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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."