Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.P186S
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OPN1LW

NM_020061.6:p.P186S

Associated Papers

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M et al.

Human Mutation, 2022

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Buena-Atienza E et al.

Scientific Reports, 2016

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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."