Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L105I
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RDH5

NM_002905.5:p.L105I

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

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

Lidén M et al.

The Journal of Biological Chemistry, 2001

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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."