Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V71fs
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RDH5

NM_002905.5:p.V71fs

Associated Papers

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

Occelli LM et al.

Human Molecular Genetics, 2022

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Skorczyk-Werner A et al.

Journal of Applied Genetics, 2015

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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."