Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.N89K
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OAT

NM_000274.4:p.N89K

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.

Santinelli R et al.

Journal of Inherited Metabolic Disease, 2004

Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.

Peltola KE et al.

Neurology, 2002

Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Valtonen M et al.

Journal of Inherited Metabolic Disease, 1999

Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.

Heinänen K et al.

Pediatric Research, 1998

Crystal structure of human recombinant ornithine aminotransferase.

Shen BW et al.

Journal of Molecular Biology, 1998

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

Brody LC et al.

The Journal of Biological Chemistry, 1992

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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."