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- B2e74abcb5d5876dc45a134b1090f1be0 NCIT_P378 "NCI" @default.
- B2e74abcb5d5876dc45a134b1090f1be0 type Axiom @default.
- B2e74abcb5d5876dc45a134b1090f1be0 annotatedProperty IAO_0000115 @default.
- B2e74abcb5d5876dc45a134b1090f1be0 annotatedSource NCIT_C162472 @default.
- B2e74abcb5d5876dc45a134b1090f1be0 annotatedTarget "An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1." @default.