Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R446_L447Splc
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RPE65

NM_000329.3:p.R446_L447Splc

Associated Papers

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Abdul R et al.

Investigative Ophthalmology & Visual Science, 2025

40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment

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

Mo G et al.

Plos One, 2014

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

Verma A et al.

Plos One, 2013

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.

Xu F et al.

Molecular Vision, 2012

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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."