sequence_variant_affecting_splicing (CURRENT_SVN) |
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SO Accession: | SO:1000071 (SOWiki) |
Definition: | A sequence_variant_effect where the way in which the primary transcriptional product is processed to form the mature transcript, specifically by the removal (splicing) of intron sequences is changed. |
Synonyms: | mutation affecting splicing, sequence variant affecting splicing |
DB Xrefs: | EBI: www.ebi.ac.uk/mutations/recommendations/mutevent.html |
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