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- B7fed9c290beea6f3b05e2dba8f3fca4d NCIT_P378 "NCI" @default.
- B7fed9c290beea6f3b05e2dba8f3fca4d type Axiom @default.
- B7fed9c290beea6f3b05e2dba8f3fca4d annotatedProperty IAO_0000115 @default.
- B7fed9c290beea6f3b05e2dba8f3fca4d annotatedSource NCIT_C45390 @default.
- B7fed9c290beea6f3b05e2dba8f3fca4d 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.