Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.P314_A315Splc
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AGXT

NM_000030.3:p.P314_A315Splc

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

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.

Sikora P et al.

Polish Archives of Internal Medicine, 2020

Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.

Du DF et al.

Current Medical Science, 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."