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- B9ca3d3863a938d4888d1c6c57ca1062e NCIT_P378 "NCI" @default.
- B9ca3d3863a938d4888d1c6c57ca1062e type Axiom @default.
- B9ca3d3863a938d4888d1c6c57ca1062e annotatedProperty IAO_0000115 @default.
- B9ca3d3863a938d4888d1c6c57ca1062e annotatedSource NCIT_C192712 @default.
- B9ca3d3863a938d4888d1c6c57ca1062e annotatedTarget "Human ATXN7 wild-type allele is located in the vicinity of 3p14.1 and is approximately 140 kb in length. This allele, which encodes ataxin-7 protein, plays a role in the positive regulation of gene transcription through histone acetylation and chromatin remodeling. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 7-17 to 38-130 is associated with spinocerebellar ataxia 7." @default.