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- B0a724c67d03c465c3c2d98ae3cdac3db NCIT_P378 "NCI" @default.
- B0a724c67d03c465c3c2d98ae3cdac3db type Axiom @default.
- B0a724c67d03c465c3c2d98ae3cdac3db annotatedProperty IAO_0000115 @default.
- B0a724c67d03c465c3c2d98ae3cdac3db annotatedSource NCIT_C45586 @default.
- B0a724c67d03c465c3c2d98ae3cdac3db annotatedTarget "An aberrant DNA sequence that results from a mutation in a sequence of eukaryotic DNA located in either an acceptor (3' or downstream) or donor (5' or upstream) splice site of a gene. Functional mutations in these intron-exon junctions cause incorrect RNA splicing, resulting in altered gene expression. Splice-site mutations may be heritable or occur somatically." @default.