Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G48_L49insFs
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RPE65

NM_000329.3:p.G48_L49insFs

Associated Papers

Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.

Lorenz B et al.

Ophthalmology, 2024

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC et al.

American Journal of Ophthalmology, 2019

Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency.

Lorenz B et al.

Investigative Ophthalmology & Visual Science, 2012

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Lorenz B et al.

Ophthalmology, 2004

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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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."