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- B51cd641969c8d411bb08e38728df6260 NCIT_P378 "NCI" @default.
- B51cd641969c8d411bb08e38728df6260 type Axiom @default.
- B51cd641969c8d411bb08e38728df6260 annotatedProperty IAO_0000115 @default.
- B51cd641969c8d411bb08e38728df6260 annotatedSource NCIT_C75598 @default.
- B51cd641969c8d411bb08e38728df6260 annotatedTarget "Human TCOF1 wild-type allele is located within 5q32-q33.1 and is approximately 43 kb in length. This allele, which encodes treacle protein, may play a fundamental role in early embryonic development, particularly in the development of the craniofacial complex. Mutations in this gene are associated with Treacher Collins syndrome." @default.