Additional file 12 of Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes

Figshare 2026 Open access

Read full text

Authors: Sruthi Srinivasan, Sivaraman Subramanian, Hui Zhou, Anselm Hoppmann, Patrick Metzger, Melanie Boerries, Senthilkumar Ramamoorthy

DOI: 10.6084/m9.figshare.31166065

Cited by: 0

Abstract

Supplementary Material 12. Table S8 The AbSplice prediction score of all COSMIC and gnomAD-associated exonic variants in the splice junction

RNA Research and Splicing Genomics and Rare Diseases Genetic Associations and Epidemiology