Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.L437F
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OAT

NM_000274.4:p.L437F

Associated Papers

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

Doimo M et al.

Human Mutation, 2013

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Brody LC et al.

The Journal of Biological Chemistry, 1992

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

Jordan SA et al.

Human Mutation, 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."