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- B65036d05751823748eff57dd907f2a28 NCIT_P378 "NCI" @default.
- B65036d05751823748eff57dd907f2a28 type Axiom @default.
- B65036d05751823748eff57dd907f2a28 annotatedProperty IAO_0000115 @default.
- B65036d05751823748eff57dd907f2a28 annotatedSource NCIT_C52312 @default.
- B65036d05751823748eff57dd907f2a28 annotatedTarget "Human TSC1 wild-type allele is located in the vicinity of 9q34 and is approximately 53 kb in length. This allele, which encodes hamartin protein, may be involved in the mediation of vesicular transport and neuronal development. Aberrant expression or mutation of the gene is associated with tuberous sclerosis." @default.