Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.I412T
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OAT

NM_000274.4:p.I412T

Associated Papers

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Balfoort BM et al.

Journal of Inherited Metabolic Disease, 2025

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Balfoort BM et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Balfoort BM et al.

Molecular Genetics and Metabolism, 0

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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."