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: zine eddine f.
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.