Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Q233R
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OAT

NM_000274.4:p.Q233R

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

Crystal structure of human recombinant ornithine aminotransferase.

Shen BW et al.

Journal of Molecular Biology, 1998

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.

Park JK et al.

Genomics, 1992

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."