Varaico: Literature-Extracted Genetic Variants

Gene:OR2W3
Variant:p.R142W
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OR2W3

NM_001001957.2:p.R142W

Associated Papers

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.

Hanany M et al.

Journal of Medical Genetics, 2019

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

Sharon D et al.

Ophthalmic Genetics, 2016

Further Consideration of the Association Between OR2W3 Mutation and Retinitis Pigmentosa.

Zhang D et al.

Investigative Ophthalmology & Visual Science, 2015

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Ma X et al.

Scientific Reports, 2015

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