Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.C387*
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AGXT

NM_000030.3:p.C387*

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

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Hashmi JA et al.

Nephrology (carlton, Vic.), 2025

Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Liu Y et al.

Pediatric Nephrology (berlin, Germany), 2023

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Wu J et al.

Urolithiasis, 2023

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.

Xin Q et al.

Frontiers in Genetics, 2023

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.

He L et al.

World Journal of Urology, 2019

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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."