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- B534fcf224995031a9228f2dc6a818eb7 NCIT_P378 "NCI" @default.
- B534fcf224995031a9228f2dc6a818eb7 type Axiom @default.
- B534fcf224995031a9228f2dc6a818eb7 annotatedProperty IAO_0000115 @default.
- B534fcf224995031a9228f2dc6a818eb7 annotatedSource NCIT_C92149 @default.
- B534fcf224995031a9228f2dc6a818eb7 annotatedTarget "Human TBX5 wild-type allele is located in the vicinity of 12q24.1 and is approximately 55 kb in length. This allele, which encodes T-box transcription factor TBX5 protein, plays a role in both transcription and mesoderm differentiation. Mutation of the gene is associated with Holt-Oram syndrome." @default.