Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.G142Splc
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OAT

NM_000274.4:p.G142Splc

Associated Papers

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Jalali H et al.

European Journal of Ophthalmology, 2021

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Mills PB et al.

Human Molecular Genetics, 2005

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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