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- Ba58a414644d57de008a97f93301d4637 NCIT_P378 "NCI" @default.
- Ba58a414644d57de008a97f93301d4637 type Axiom @default.
- Ba58a414644d57de008a97f93301d4637 annotatedProperty IAO_0000115 @default.
- Ba58a414644d57de008a97f93301d4637 annotatedSource NCIT_C104886 @default.
- Ba58a414644d57de008a97f93301d4637 annotatedTarget "Human CHAT wild-type allele is located in the vicinity of 10q11.2 and is approximately 85 kb in length. This allele, which encodes choline O-acetyltransferase protein, plays a role in the synthesis of acetylcholine. Mutation of the gene is associated with congenital myasthenic syndrome with episodic apnea (familial infantile myasthenia gravis 2)." @default.