Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A478T
Back to variants list

RPE65

NM_000329.3:p.A478T

Associated Papers

Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.

da Costa BL et al.

Advances in Experimental Medicine and Biology, 2025

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J et al.

Peerj, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."