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Article

An intronic RNA element modulates Factor VIII exon-16 splicing

14 Nov 2023

Abstract excerpt

Pathogenic variants in the human Factor VIII (F8) gene cause Hemophilia A (HA). Here, we investigated the impact of 97 HA-causing single-nucleotide variants on the splicing of 11 exons from F8. For the majority of F8 exons, splicing was insensitive to the presence of HA-causing variants. However, splicing of several exons, including exon-16, was impacted by variants predicted to alter exonic splicing regulatory...

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PMID: 37962303
DOI: 10.1093/nar/gkad1034

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