Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.H53fs
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OAT

NM_000274.4:p.H53fs

Associated Papers

Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Akler G et al.

Molecular Genetics & Genomic Medicine, 2020

31880409 (PubMed )
Supplement: MGG3-8-e1053-s002.xlsx › Sheet1

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

Brody LC et al.

The Journal of Biological Chemistry, 1992

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

Balfoort BM et al.

Molecular Genetics and Metabolism, 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."