Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F336S
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RPE65

NM_000329.3:p.F336S

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

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."