Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
Silvia Lombardi, Gabriele Leo, Simone Merlin, Antonia Follenzi, John H. McVey, Iva Maestri, Francesco Bernardi, Mirko Pinotti, Dario Balestra
Topics & Concepts
Missense mutationRNA splicingExonBiologyIn silicoGeneticsPhenotypeGeneExon skippingAlternative splicingComputational biologyRNACancer-related gene regulationHemophilia Treatment and ResearchPlatelet Disorders and Treatments