Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.F238S
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AGXT

NM_000030.3:p.F238S

Associated Papers

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

Deesker LJ et al.

Kidney International Reports, 2022

Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.

Dindo M et al.

Journal of Personalized Medicine, 2021

Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.

Dindo M et al.

Biochimie, 2016

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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."