Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227delFs
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AGXT

NM_000030.3:p.K227delFs

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

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

Ge Y et al.

Human Mutation, 2023

Clinical analysis of 13 children with primary hyperoxaluria type 1.

Lin JA et al.

Urolithiasis, 2021

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

Liao X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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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."