Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.L33M
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AGXT

NM_000030.3:p.L33M

Associated Papers

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

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

Wu J et al.

Urolithiasis, 2023

Lumasiran for primary hyperoxaluria type 1: What we have learned?

Gang X et al.

Frontiers in Pediatrics, 2022

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

Xu CB et al.

Bmc Nephrology, 2021

33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1

Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.

Zhao F et al.

Urolithiasis, 2021

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."