Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.R190H
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LRAT

NM_004744.5:p.R190H

Associated Papers

Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.

Chelstowska S et al.

Biochemistry, 2017

Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle.

Sears AE et al.

Biochemistry, 2016

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L et al.

Human Genetics, 2015

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A et al.

Investigative Ophthalmology & Visual Science, 2012

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Preising MN et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007

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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."