Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.G82_H83Fs
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AGXT

NM_000030.3:p.G82_H83Fs

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

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Zhu X et al.

Kidney Diseases (basel, Switzerland), 2024

39131880 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.pdf

A case report of invasive infantile primary hyperoxaluria type 1 and literature review.

Ni T et al.

Cen Case Reports, 2023

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