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- Bc252b172c2da15a86af91bf2bfd1e4ed NCIT_P378 "NCI" @default.
- Bc252b172c2da15a86af91bf2bfd1e4ed type Axiom @default.
- Bc252b172c2da15a86af91bf2bfd1e4ed annotatedProperty IAO_0000115 @default.
- Bc252b172c2da15a86af91bf2bfd1e4ed annotatedSource NCIT_C51536 @default.
- Bc252b172c2da15a86af91bf2bfd1e4ed annotatedTarget "Human GDF5 wild-type allele is located in the vicinity of 20q11.2 and is approximately 5 kb in length. This allele, which encodes growth/differentiation factor 5 protein, is involved in skeletal development. Mutations in the gene produce variants that are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type." @default.