Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F418Y
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RPE65

NM_000329.3:p.F418Y

Associated Papers

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J et al.

Korean Journal of Ophthalmology : Kjo, 2023

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.

Shi J et al.

Journal of Clinical Medicine, 2021

Aromatic residues in the substrate cleft of RPE65 protein govern retinol isomerization and modulate its progression.

Chander P et al.

The Journal of Biological Chemistry, 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."