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- B41d671c52594621a3b28bb04e3df1235 NCIT_P378 "NCI" @default.
- B41d671c52594621a3b28bb04e3df1235 type Axiom @default.
- B41d671c52594621a3b28bb04e3df1235 annotatedProperty IAO_0000115 @default.
- B41d671c52594621a3b28bb04e3df1235 annotatedSource NCIT_C45574 @default.
- B41d671c52594621a3b28bb04e3df1235 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.