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- Bb67da2148ec9dcffc3546aa136989c45 hasDbXref "NCIT:C132292" @default.
- Bb67da2148ec9dcffc3546aa136989c45 type Axiom @default.
- Bb67da2148ec9dcffc3546aa136989c45 annotatedProperty IAO_0000115 @default.
- Bb67da2148ec9dcffc3546aa136989c45 annotatedSource MONDO_0009689 @default.
- Bb67da2148ec9dcffc3546aa136989c45 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.