Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.D87N
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RPE65

NM_000329.3:p.D87N

Associated Papers

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

Panneman DM et al.

Genes, 2025

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
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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."