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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.T525A

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RPE65

NM_000329.3:p.T525A

hg38:chr1:68429805 T>C

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

37704110 (PubMed )

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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."