Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227Splc
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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

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.

Deesker LJ et al.

Kidney International Reports, 2022

35812297 (PubMed )
Supplement: mmc1.pdf

Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.

Poyah P et al.

Canadian Journal of Kidney Health and Disease, 2021

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
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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."