Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.W177R
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OPN1LW

NM_020061.6:p.W177R

Associated Papers

Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function.

Sechrest ER et al.

Frontiers in Neuroscience, 2024

Blue cone monochromacy and gene therapy.

Sechrest ER et al.

Vision Research, 2023

Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.

Zhu P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC et al.

Human Mutation, 2014

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

Carroll J et al.

Investigative Ophthalmology & Visual Science, 2012

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

Gardner JC et al.

Advances in Experimental Medicine and Biology, 2012

Gene conversion in human genetic disease.

Chen JM et al.

Genes, 2010

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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."