Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P47fs
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RPE65

NM_000329.3:p.P47fs

Associated Papers

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.

Pierrache LHM et al.

Retina (philadelphia, Pa.), 2020

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC et al.

American Journal of Ophthalmology, 2019

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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."