Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.S83N
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OAT

NM_000274.4:p.S83N

Associated Papers

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.

Huang J et al.

The British Journal of Ophthalmology, 2019

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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."