Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V305fs
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RDH5

NM_002905.5:p.V305fs

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

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Ajmal M et al.

Molecular Vision, 2012

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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."