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- W2912343410 abstract "| This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease." @default.
- W2912343410 created "2019-02-21" @default.
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- W2912343410 date "2019-01-01" @default.
- W2912343410 modified "2023-09-23" @default.
- W2912343410 title "Retinal dystrophies and variants in PRPH2" @default.
- W2912343410 doi "https://doi.org/10.5935/0004-2749.20190033" @default.
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