Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.R247*
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OPN1LW

NM_020061.6:p.R247*

Associated Papers

Blue cone monochromacy and gene therapy.

Sechrest ER et al.

Vision Research, 2023

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2023

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

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
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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."