Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Q4*
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RPE65

NM_000329.3:p.Q4*

Associated Papers

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Abdul R et al.

Investigative Ophthalmology & Visual Science, 2025

40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.

Testa F et al.

Scientific Reports, 2022

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2022

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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."