Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Q104R
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OAT

NM_000274.4:p.Q104R

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

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M et al.

Human Mutation, 2013

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 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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