Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E469A
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RPE65

NM_000329.3:p.E469A

Associated Papers

Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium.

Takahashi Y et al.

Febs Letters, 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."