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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.E512E

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RPE65

NM_000329.3:p.E512E

hg38:chr1:68429842 T>C

Associated Papers

Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

Gocuk SA et al.

The British Journal of Ophthalmology, 2025

39122355 (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."