Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.G47E
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AGXT

NM_000030.3:p.G47E

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

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

Murad H et al.

Bmc Medical Genomics, 2021

High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.

Brown NA et al.

Blood, 2014

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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."