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- Bfafc4ecbdfb2030ece20a4c000819176 NCIT_P378 "NCI" @default.
- Bfafc4ecbdfb2030ece20a4c000819176 type Axiom @default.
- Bfafc4ecbdfb2030ece20a4c000819176 annotatedProperty IAO_0000115 @default.
- Bfafc4ecbdfb2030ece20a4c000819176 annotatedSource NCIT_C129068 @default.
- Bfafc4ecbdfb2030ece20a4c000819176 annotatedTarget "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." @default.