mutation_affecting_splicing (RELEASE_2.1) |
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SO Accession: | SO:1000071 (SOWiki) |
Definition: | Mutation affects the way in which the primary transcriptional product is processed to form the mature transcript, specifically by the removal (splicing) of intron sequences. |
DB Xrefs: | URL: http://www.ebi.ac.uk/mutations/recommendations/mutevent.html |
Parent: | consequences_of_mutation (SO:1000132) |
Children: | splice_acceptor_mutation (SO:1000073) |
mutation_causes_intron_gain (SO:1000185) | |
mutation_causes_exon_loss (SO:1000184) | |
splice_donor_mutation (SO:1000072) | |
cryptic_splice_activator_mutation (SO:1000074) |
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