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- Bc3c2efc1fd6e0fecf6e8520a37cd7d6e NCIT_P378 "NCI" @default.
- Bc3c2efc1fd6e0fecf6e8520a37cd7d6e type Axiom @default.
- Bc3c2efc1fd6e0fecf6e8520a37cd7d6e annotatedProperty IAO_0000115 @default.
- Bc3c2efc1fd6e0fecf6e8520a37cd7d6e annotatedSource NCIT_C97826 @default.
- Bc3c2efc1fd6e0fecf6e8520a37cd7d6e annotatedTarget "Human HNF1A wild-type allele is located in the vicinity of 12q22-qter; 12q24.2 and is approximately 25 kb in length. This allele, which encodes hepatocyte nuclear factor 1-alpha protein, is involved in both transcriptional regulation and DNA binding. Mutation of the gene is associated with familial hepatic adenoma, maturity-onset diabetes of the young type 3 and diabetes mellitus insulin-dependent type 20." @default.