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- Bf8c3581564aacc7c006564d411270a3e NCIT_P378 "NCI" @default.
- Bf8c3581564aacc7c006564d411270a3e type Axiom @default.
- Bf8c3581564aacc7c006564d411270a3e annotatedProperty IAO_0000115 @default.
- Bf8c3581564aacc7c006564d411270a3e annotatedSource NCIT_C45390 @default.
- Bf8c3581564aacc7c006564d411270a3e annotatedTarget "An inherited single base change at a donor splice site in a genomic DNA sequence that results in an allelic variant of the wild-type gene. Donor splice sites are located at exon to intron junctions at the 5' end of the intron." @default.