Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.K82E
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OPN1LW

NM_020061.6:p.K82E

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

Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.

Escher P

Ophthalmic Genetics, 2019

Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.

Cai B et al.

Ophthalmic Genetics, 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."