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- Bc50dbbf22c4b106b8d5186b6c2b3bf42 NCIT_P378 "NCI" @default.
- Bc50dbbf22c4b106b8d5186b6c2b3bf42 type Axiom @default.
- Bc50dbbf22c4b106b8d5186b6c2b3bf42 annotatedProperty IAO_0000115 @default.
- Bc50dbbf22c4b106b8d5186b6c2b3bf42 annotatedSource NCIT_C129304 @default.
- Bc50dbbf22c4b106b8d5186b6c2b3bf42 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.