A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion

Hilary Scott(Massachusetts Eye and Ear Infirmary), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Rachel M. Huckfeldt(Penn Presbyterian Medical Center), Eric A. Pierce(Broad Institute), Evelyn Harper(Massachusetts Eye and Ear Infirmary), Emily Place(MACOM (United States)), Sudeep Mehrotra(Massachusetts Eye and Ear Infirmary), Jason Comander(Massachusetts Eye and Ear Infirmary)
medRxiv
December 6, 2022
Cited by 8


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