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COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.

Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP
Sci Rep. 2020 Dec 4;10(1):21269. doi: 10.1038/s41598-020-77394-3. (Link opens in a new window) PubMed (Link opens in a new window) Article

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