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- Bbfc3ccb414803414742a74dd04d0ba4e NCIT_P378 "NCI" @default.
- Bbfc3ccb414803414742a74dd04d0ba4e NCIT_P381 "UniProt" @default.
- Bbfc3ccb414803414742a74dd04d0ba4e type Axiom @default.
- Bbfc3ccb414803414742a74dd04d0ba4e annotatedProperty IAO_0000115 @default.
- Bbfc3ccb414803414742a74dd04d0ba4e annotatedSource NCIT_C74974 @default.
- Bbfc3ccb414803414742a74dd04d0ba4e annotatedTarget "Human ATP7A wild-type allele is located within Xq13.2-q13.3 and is approximately 139 kb in length. This allele, which encodes copper-transporting ATPase 1 protein, plays a role in the localization of copper ions. Mutations in the gene are associated with both Menkes disease and occipital horn syndrome." @default.