Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.P300_V301Splc
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OAT

NM_000274.4:p.P300_V301Splc

Associated Papers

Reversal of cystoid macular edema in gyrate atrophy patients.

Heller D et al.

Ophthalmic Genetics, 2017

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."