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@ARTICLE{Srinivasan:307445,
author = {S. Srinivasan and S. Subramanian and H. Zhou and A.
Hoppmann and P. Metzger and M. Boerries$^*$ and S.
Ramamoorthy},
title = {{S}ynonymous and non-synonymous variants at splice
junctions can disrupt splicing and are frequently linked to
disease associated loss of function genes.},
journal = {BMC genomics},
volume = {nn},
issn = {1471-2164},
address = {London},
publisher = {BioMed Central},
reportid = {DKFZ-2025-03044},
pages = {nn},
year = {2025},
note = {epub},
keywords = {COSMIC (Other) / Cancer genomics (Other) / Canonical splice
sites (Other) / Exonic splice variants (Other) / Missense
variants (Other) / Silent variants (Other) / Splice junction
(Other) / Splicing (Other) / Variant classification (Other)},
cin = {FR01},
ddc = {610},
cid = {I:(DE-He78)FR01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41436921},
doi = {10.1186/s12864-025-12466-0},
url = {https://inrepo02.dkfz.de/record/307445},
}