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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Di Scipio M, et al. Among authors: yu cw. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. Invest Ophthalmol Vis Sci. 2020. PMID: 32881472 Free PMC article.
Retinal detachment.
Kwok JM, Yu CW, Christakis PG. Kwok JM, et al. Among authors: yu cw. CMAJ. 2020 Mar 23;192(12):E312. doi: 10.1503/cmaj.191337. CMAJ. 2020. PMID: 32392514 Free PMC article. No abstract available.
465 results