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- NCIT_C150666 IAO_0000115 "Human COL6A3 wild-type allele is located in the vicinity of 2q37.3 and is approximately 90 kb in length. This allele, which encodes collagen alpha-3(VI) chain protein, is involved in beaded filament collagen formation. Mutation of the gene is associated with Bethlem myopathy, type 27 dystonia and Ullrich congenital muscular dystrophy." @default.
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- NCIT_C150666 NCIT_P106 "Gene or Genome" @default.
- NCIT_C150666 NCIT_P107 "COL6A3 wt Allele" @default.
- NCIT_C150666 NCIT_P108 "COL6A3 wt Allele" @default.
- NCIT_C150666 NCIT_P208 "CL552366" @default.
- NCIT_C150666 NCIT_P321 "1293" @default.
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- NCIT_C150666 normalizedInformationContent "100" @default.
- NCIT_C150666 referenceCount "1" @default.
- NCIT_C150666 hasExactSynonym "BTHLM1" @default.
- NCIT_C150666 hasExactSynonym "COL6A3 wt Allele" @default.
- NCIT_C150666 hasExactSynonym "Collagen Type VI Alpha 3 Chain wt Allele" @default.
- NCIT_C150666 hasExactSynonym "Collagen, Type VI, Alpha 3 Gene" @default.
- NCIT_C150666 hasExactSynonym "Collagen, Type VI, Alpha-3 Gene" @default.
- NCIT_C150666 hasExactSynonym "DYT27" @default.
- NCIT_C150666 hasExactSynonym "UCMD1" @default.
- NCIT_C150666 inSubset NCIT_C116977 @default.
- NCIT_C150666 inSubset NCIT_C142799 @default.
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- NCIT_C150666 type Class @default.
- NCIT_C150666 isDefinedBy ncit.owl @default.
- NCIT_C150666 label "COL6A3 wt Allele" @default.
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