Varaico: Literature-Extracted Genetic Variants

Gene:OPN1MW
Variant:p.I178V
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OPN1MW

NM_000513.2:p.I178V

Associated Papers

The causal mutation in ARR3 gene for high myopia and progressive color vision defect.

Gu L et al.

Scientific Reports, 2023

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Haer-Wigman L et al.

Npj Genomic Medicine, 2022

36351915 (PubMed )
Supplement: 41525_2022_334_MOESM3_ESM.xlsx › Supplementary_Table_1

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

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Gardner JC et al.

American Journal of Human Genetics, 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."