Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.G142E
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OAT

NM_000274.4:p.G142E

Associated Papers

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.

Montioli R et al.

Frontiers in Molecular Biosciences, 2021

34395527 (PubMed )
Supplement: DataSheet1.PDF

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Katagiri S et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2014

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.

Kim SJ et al.

Korean Journal of Ophthalmology : Kjo, 2013

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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