Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.Q256delFs
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AGXT

NM_000030.3:p.Q256delFs

Associated Papers

Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.

Amr KS et al.

Molecular Biology Reports, 2025

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

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

Naguib S et al.

Genetic Testing and Molecular Biomarkers, 2024

Clinical and molecular characterization of primary hyperoxaluria in Egypt.

Soliman NA et al.

Scientific Reports, 2022

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Ahmed HA et al.

Molecular Genetics & Genomic Medicine, 2022

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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."