Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E148Q
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RPE65

NM_000329.3:p.E148Q

Associated Papers

Mechanism of Lutein to meso-Zeaxanthin Isomerization by RPE65 Catalysis.

Ballinger A et al.

Biorxiv : the Preprint Server for Biology, 2025

Key Residues for Catalytic Function and Metal Coordination in a Carotenoid Cleavage Dioxygenase.

Sui X et al.

The Journal of Biological Chemistry, 2016

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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."