Additional file 13 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.31166068
Cited by: 0

Abstract

Supplementary Material 13. Table S9 ClinVar assessment of exonic variants at the splice junction

Fields of Study & Subjects

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

Publication details

Journal / source
Figshare
Publication date
1 January 2026