Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227Splc
Back to variants list

AGXT

NM_000030.3:p.K227Splc

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

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

Bakkaloğlu SA et al.

Nephrology (carlton, Vic.), 2024

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

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL et al.

Molecular Genetics & Genomic Medicine, 2015

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."