Varaico: Literature-Extracted Genetic Variants

Gene:OPN1MW
Variant:p.P307L
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OPN1MW

NM_000513.2:p.P307L

Associated Papers

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM6_ESM.xlsx › SelectedGene

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

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."