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- NCIT_C75598 IAO_0000115 "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.
- NCIT_C75598 NCIT_NHC0 "C75598" @default.
- NCIT_C75598 NCIT_P100 "606847" @default.
- NCIT_C75598 NCIT_P102 "NM_001008656" @default.
- NCIT_C75598 NCIT_P106 "Gene or Genome" @default.
- NCIT_C75598 NCIT_P108 "TCOF1 wt Allele" @default.
- NCIT_C75598 NCIT_P207 "C2699752" @default.
- NCIT_C75598 NCIT_P321 "6949" @default.
- NCIT_C75598 NCIT_P366 "TCOF1_wt_Allele" @default.
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- NCIT_C75598 normalizedInformationContent "100" @default.
- NCIT_C75598 referenceCount "1" @default.
- NCIT_C75598 hasExactSynonym "MFD1" @default.
- NCIT_C75598 hasExactSynonym "TCOF1 wt Allele" @default.
- NCIT_C75598 hasExactSynonym "Treacher Collins-Franceschetti Syndrome 1 wt Allele" @default.
- NCIT_C75598 hasExactSynonym "Treacle" @default.
- NCIT_C75598 type Class @default.
- NCIT_C75598 isDefinedBy ncit.owl @default.
- NCIT_C75598 label "TCOF1 wt Allele" @default.
- NCIT_C75598 subClassOf NCIT_C16612 @default.
- NCIT_C75598 subClassOf NCIT_C20194 @default.
- NCIT_C75598 subClassOf NCIT_C75592 @default.
- NCIT_C75598 subClassOf NCIT_C75598 @default.
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- NCIT_C75598 equivalentClass Bb14a867cfd2d6041aab2bb2c6ed89cc9 @default.