Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y144*
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RPE65

NM_000329.3:p.Y144*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2021

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z et al.

Scientific Reports, 2015

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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."