TY  - JOUR
AU  - Srinivasan, Sruthi
AU  - Subramanian, Swetha
AU  - Zhou, Hui
AU  - Hoppmann, Anselm
AU  - Metzger, Patrick
AU  - Boerries, Melanie
AU  - Ramamoorthy, Senthilkumar
TI  - Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
JO  - BMC genomics
VL  - nn
SN  - 1471-2164
CY  - London
PB  - BioMed Central
M1  - DKFZ-2025-03044
SP  - nn
PY  - 2025
N1  - epub
KW  - COSMIC (Other)
KW  - Cancer genomics (Other)
KW  - Canonical splice sites (Other)
KW  - Exonic splice variants (Other)
KW  - Missense variants (Other)
KW  - Silent variants (Other)
KW  - Splice junction (Other)
KW  - Splicing (Other)
KW  - Variant classification (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:41436921
DO  - DOI:10.1186/s12864-025-12466-0
UR  - https://inrepo02.dkfz.de/record/307445
ER  -