Varaico: Literature-Extracted Genetic Variants

Gene:RDH10
Variant:p.E101K
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RDH10

NM_172037.5:p.E101K

Associated Papers

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA et al.

Human Molecular Genetics, 2005

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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."