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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.Y89Y

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RPE65

NM_000329.3:p.Y89Y

hg38:chr1:68444862 G>A

Associated Papers

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.

Panneman DM et al.

Genes, 2025

41009968 (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."