Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L43P
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RPE65

NM_000329.3:p.L43P

Associated Papers

Bystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis.

Lee SH et al.

Molecular Therapy. Methods & Clinical Development, 2025

Bystander base editing interferes with visual function restoration in Leber congenital amaurosis.

Lee SH et al.

Biorxiv : the Preprint Server for Biology, 2024

In vivo application of base and prime editing to treat inherited retinal diseases.

Jo DH et al.

Progress in Retinal and Eye Research, 2023

Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing.

Jo DH et al.

Molecular Therapy. Nucleic Acids, 2023

Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing.

Suh S et al.

Nature Biomedical Engineering, 2021

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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."