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- B28c18f9b7afff1fff20cd8df834c3e5d NCIT_P378 "NCI" @default.
- B28c18f9b7afff1fff20cd8df834c3e5d type Axiom @default.
- B28c18f9b7afff1fff20cd8df834c3e5d annotatedProperty IAO_0000115 @default.
- B28c18f9b7afff1fff20cd8df834c3e5d annotatedSource NCIT_C129304 @default.
- B28c18f9b7afff1fff20cd8df834c3e5d annotatedTarget "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." @default.