Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.G121D
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OAT

NM_000274.4:p.G121D

Associated Papers

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

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

Ornithine and its role in metabolic diseases: An appraisal.

Sivashanmugam M et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2017

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Sergouniotis PI et al.

Ophthalmology, 2012

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."