Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.G80S
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AGXT

NM_000030.3:p.G80S

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

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants

TNF-α promoter single nucleotide polymorphisms and haplotypes associate with susceptibility of immune thrombocytopenia in Chinese adults.

Wang N et al.

Human Immunology, 2014

Tumor necrosis factor-alpha gene polymorphisms are associated with severity of acute graft-versus-host disease following matched unrelated donor bone marrow transplantation in children: a Pediatric Blood and Marrow Transplant Consortium study.

Goyal RK et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2010

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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."