Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R82Splc
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RPE65

NM_000329.3:p.R82Splc

Associated Papers

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes.

Weber VJ et al.

Jci Insight, 2025

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Zobor D et al.

Investigative Ophthalmology & Visual Science, 2018

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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."