Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Y158S
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OAT

NM_000274.4:p.Y158S

Associated Papers

Inborn Errors of Metabolism: Gyrate Atrophy.

Hartung KJ et al.

Advances in Experimental Medicine and Biology, 2025

Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.

Floriani F et al.

International Journal of Molecular Sciences, 2023

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Jalali H et al.

European Journal of Ophthalmology, 2021

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Cui X et al.

Ophthalmic Genetics, 2018

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

Balfoort BM et al.

Molecular Genetics and Metabolism, 0

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.

Molaei Ramshe S et al.

Journal of Ophthalmic & Vision Research, 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."