Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.P307L
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OPN1LW

NM_020061.6:p.P307L

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

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Katagiri S et al.

Scientific Reports, 2018

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 between red and defective green opsin gene in blue cone monochromacy.

Reyniers E et al.

Genomics, 1995

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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."