Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.L290del1
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OAT

NM_000274.4:p.L290del1

Associated Papers

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Zekušić M et al.

Biochemia Medica, 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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