Additional file 5 of Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes

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

DOI: 10.6084/m9.figshare.31166044

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Abstract

Supplementary Material 5. Table S1 Splice junction-associated silent and missense variants observed in the COSMIC and gnomAD databases

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