Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G436V
Back to variants list

RPE65

NM_000329.3:p.G436V

Associated Papers

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J et al.

Korean Journal of Ophthalmology : Kjo, 2023

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

37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2

A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.

Mo G et al.

Plos One, 2014

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH et al.

Investigative Ophthalmology & Visual Science, 2007

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA et al.

Investigative Ophthalmology & Visual Science, 2000

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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."