Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.G181V
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RDH5

NM_002905.5:p.G181V

Associated Papers

Fundus albipunctatus disease-associated RDH5/L310delinsEV mutation undertakes AMFR-mediated polyubiquitination and degradation in proteasome.

Dong Y et al.

Experimental Eye Research, 2026

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

Occelli LM et al.

Human Molecular Genetics, 2022

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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."