Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K453N
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RPE65

NM_000329.3:p.K453N

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

Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Lin J et al.

Nature Communications, 2021

34362903 (PubMed )
Supplement: 41467_2021_25012_MOESM3_ESM.xlsx › TableS2.SomaticMutations
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