Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.A213V
Back to variants list

AGXT

NM_000030.3:p.A213V

Associated Papers

[Clinical analysis of seven cases of primary hyperoxaluria type 1].

Li ZL et al.

Zhonghua Nei Ke Za Zhi, 2024

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

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

Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.

Ge Y et al.

Human Mutation, 2023

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X et al.

Plos One, 2011

22216297 (PubMed )
Supplement: pone.0029500.s005.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."