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- NCIT_C189076 IAO_0000115 "Human DARS2 wild-type allele is located in the vicinity of 1q25.1 and is approximately 34 kb in length. This allele, which encodes aspartate-tRNA ligase, mitochondrial protein, is involved in mitochondrial production of aspartyl-tRNA. Loss of function mutations in the gene are associated with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation." @default.
- NCIT_C189076 NCIT_NHC0 "C189076" @default.
- NCIT_C189076 NCIT_P100 "610956" @default.
- NCIT_C189076 NCIT_P102 "AK022754" @default.
- NCIT_C189076 NCIT_P106 "Gene or Genome" @default.
- NCIT_C189076 NCIT_P108 "DARS2 wt Allele" @default.
- NCIT_C189076 NCIT_P208 "CL1794298" @default.
- NCIT_C189076 NCIT_P321 "55157" @default.
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- NCIT_C189076 NCIT_R37 NCIT_C28498 @default.
- NCIT_C189076 NCIT_R37 NCIT_C30022 @default.
- NCIT_C189076 NCIT_R41 NCIT_C14182 @default.
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- NCIT_C189076 NCIT_R41 NCIT_C14250 @default.
- NCIT_C189076 NCIT_R41 NCIT_C14262 @default.
- NCIT_C189076 NCIT_R41 NCIT_C14282 @default.
- NCIT_C189076 NCIT_R41 NCIT_C25796 @default.
- NCIT_C189076 NCIT_R41 NCIT_C79740 @default.
- NCIT_C189076 normalizedInformationContent "100" @default.
- NCIT_C189076 referenceCount "1" @default.
- NCIT_C189076 hasExactSynonym "ASPRS" @default.
- NCIT_C189076 hasExactSynonym "Aspartate tRNA Ligase 2, Mitochondrial Gene" @default.
- NCIT_C189076 hasExactSynonym "Aspartyl-tRNA Synthetase 2 Gene" @default.
- NCIT_C189076 hasExactSynonym "Aspartyl-tRNA Synthetase 2, Mitochondrial wt Allele" @default.
- NCIT_C189076 hasExactSynonym "Aspartyl-tRNA Synthetase, Mitochondrial Gene" @default.
- NCIT_C189076 hasExactSynonym "DARS2 wt Allele" @default.
- NCIT_C189076 hasExactSynonym "FLJ10514" @default.
- NCIT_C189076 hasExactSynonym "LBSL" @default.
- NCIT_C189076 hasExactSynonym "MT-ASPRS" @default.
- NCIT_C189076 hasExactSynonym "mtAspRS" @default.
- NCIT_C189076 type Class @default.
- NCIT_C189076 isDefinedBy ncit.owl @default.
- NCIT_C189076 label "DARS2 wt Allele" @default.
- NCIT_C189076 subClassOf B7e518c264ece5fb1dc0ce6563b634481 @default.
- NCIT_C189076 subClassOf Be49eff3b9fb30cf2f48e98ac48d8bf79 @default.
- NCIT_C189076 subClassOf NCIT_C16612 @default.
- NCIT_C189076 subClassOf NCIT_C189075 @default.
- NCIT_C189076 subClassOf NCIT_C189076 @default.
- NCIT_C189076 subClassOf NCIT_C21281 @default.
- NCIT_C189076 subClassOf NCIT_C25943 @default.