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- Bffdc27a3e0b5ed7ef3c58954cf51eaba NCIT_P378 "NCI" @default.
- Bffdc27a3e0b5ed7ef3c58954cf51eaba type Axiom @default.
- Bffdc27a3e0b5ed7ef3c58954cf51eaba annotatedProperty IAO_0000115 @default.
- Bffdc27a3e0b5ed7ef3c58954cf51eaba annotatedSource NCIT_C45574 @default.
- Bffdc27a3e0b5ed7ef3c58954cf51eaba annotatedTarget "An inherited single base substitution 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 single nucleotide polymorphisms in these intron-exon junctions can cause incorrect RNA splicing which, in turn, alters gene expression." @default.