Journal Article

DKFZ-2025-03044

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan, S. ; Subramanian, S. ; Zhou, H. ; Hoppmann, A. ; Metzger, P. ; Boerries, M.DKFZ* ; Ramamoorthy, S.

2025
BioMed Central London

Keyword(s): COSMIC ; Cancer genomics ; Canonical splice sites ; Exonic splice variants ; Missense variants ; Silent variants ; Splice junction ; Splicing ; Variant classification

Note: epub

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Contributing Institute(s):

1. DKTK Koordinierungsstelle Freiburg (FR01)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025

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Database coverage:
; ; Article Processing Charges ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Ebsco Academic Search ; Essential Science Indicators ; Fees ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection ; Zoological Record

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