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- NCIT_C179162 IAO_0000115 "Human PDK3 wild-type allele is located in the vicinity of Xp22.11 and is approximately 85 kb in length. This allele, which encodes [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial protein, plays a role in the regulation of glucose metabolism and aerobic respiration. Mutation of the gene is associated with X-linked dominant Charcot-Marie-Tooth disease type 6." @default.
- NCIT_C179162 NCIT_NHC0 "C179162" @default.
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- NCIT_C179162 NCIT_P106 "Gene or Genome" @default.
- NCIT_C179162 NCIT_P107 "PDK3 wt Allele" @default.
- NCIT_C179162 NCIT_P108 "PDK3 wt Allele" @default.
- NCIT_C179162 NCIT_P208 "CL1648458" @default.
- NCIT_C179162 NCIT_P321 "5165" @default.
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- NCIT_C179162 normalizedInformationContent "100" @default.
- NCIT_C179162 referenceCount "1" @default.
- NCIT_C179162 hasExactSynonym "CMTX6" @default.
- NCIT_C179162 hasExactSynonym "GS1-358P8.4" @default.
- NCIT_C179162 hasExactSynonym "PDHK3" @default.
- NCIT_C179162 hasExactSynonym "PDK3 wt Allele" @default.
- NCIT_C179162 hasExactSynonym "Pyruvate Dehydrogenase Kinase 3 wt Allele" @default.
- NCIT_C179162 hasExactSynonym "Pyruvate Dehydrogenase Kinase, Isoenzyme 3 Gene" @default.
- NCIT_C179162 hasExactSynonym "Pyruvate Dehydrogenase Kinase, Isozyme 3 Gene" @default.
- NCIT_C179162 hasExactSynonym "Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial Gene" @default.
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- NCIT_C179162 type Class @default.
- NCIT_C179162 isDefinedBy ncit.owl @default.
- NCIT_C179162 label "PDK3 wt Allele" @default.
- NCIT_C179162 subClassOf NCIT_C16612 @default.
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