Search Results - "Karas, Jonathan"
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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
Published in Investigative ophthalmology & visual science (20-08-2020)“…To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic…”
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