Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.G353A
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OAT

NM_000274.4:p.G353A

Associated Papers

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Buijs MJN et al.

Acta Ophthalmologica, 2025

Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency.

Puja A et al.

Biorxiv : the Preprint Server for Biology, 2025

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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."