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2. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

Author

Barny, Iris, primary, Perrault, Isabelle, additional, Michel, Christel, additional, Soussan, Mickael, additional, Goudin, Nicolas, additional, Rio, Marlène, additional, Thomas, Sophie, additional, Attié-Bitach, Tania, additional, Hamel, Christian, additional, Dollfus, Hélène, additional, Kaplan, Josseline, additional, Rozet, Jean-Michel, additional, and Gerard, Xavier, additional

Published
2018
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