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- B66e4b7d10c008a379a747d44f8c79e31 hasDbXref "NCIT:C132292" @default.
- B66e4b7d10c008a379a747d44f8c79e31 type Axiom @default.
- B66e4b7d10c008a379a747d44f8c79e31 annotatedProperty IAO_0000115 @default.
- B66e4b7d10c008a379a747d44f8c79e31 annotatedSource MONDO_0009689 @default.
- B66e4b7d10c008a379a747d44f8c79e31 annotatedTarget "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." @default.