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- NCIT_C192712 IAO_0000115 "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.
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- NCIT_C192712 NCIT_P106 "Gene or Genome" @default.
- NCIT_C192712 NCIT_P108 "ATXN7 wt Allele" @default.
- NCIT_C192712 NCIT_P321 "6314" @default.
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- NCIT_C192712 hasExactSynonym "ADCAII" @default.
- NCIT_C192712 hasExactSynonym "ATXN7 wt Allele" @default.
- NCIT_C192712 hasExactSynonym "Ataxin 7 wt Allele" @default.
- NCIT_C192712 hasExactSynonym "Autosomal Dominant Cerebellar Ataxia with Retinal Degeneration Gene" @default.
- NCIT_C192712 hasExactSynonym "OPCA3" @default.
- NCIT_C192712 hasExactSynonym "SAGA Associated Factor 73 kDa Homolog (S. cerevisiae) Gene" @default.
- NCIT_C192712 hasExactSynonym "SAGA Associated Factor 73 kDa Homolog Gene" @default.
- NCIT_C192712 hasExactSynonym "SCA7" @default.
- NCIT_C192712 hasExactSynonym "SGF73" @default.
- NCIT_C192712 hasExactSynonym "Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy with Retinal Degeneration) Gene" @default.
- NCIT_C192712 type Class @default.
- NCIT_C192712 isDefinedBy ncit.owl @default.
- NCIT_C192712 label "ATXN7 wt Allele" @default.
- NCIT_C192712 subClassOf Bea6ebcaba3c150e2d6b7bf3d0394803c @default.
- NCIT_C192712 subClassOf Bee4d5a1a71eb74f4c7be14578f3211f4 @default.
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