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- NCIT_C200632 IAO_0000115 "Human AARS1 wild-type allele is located in the vicinity of 16q22.1 and is approximately 38 kb in length. This allele, which encodes alanine-tRNA ligase, cytoplasmic protein, is involved in the synthesis of alanyl-tRNA. Mutations in the gene are associated with hereditary diffuse leukoencephalopathy with spheroids 2, axonal Charcot-Marie-Tooth disease type 2N, developmental and epileptic encephalopathy 29 and nonphotosensitive trichothiodystrophy 8." @default.
- NCIT_C200632 NCIT_NHC0 "C200632" @default.
- NCIT_C200632 NCIT_P100 "601065" @default.
- NCIT_C200632 NCIT_P102 "D32050" @default.
- NCIT_C200632 NCIT_P106 "Gene or Genome" @default.
- NCIT_C200632 NCIT_P108 "AARS1 wt Allele" @default.
- NCIT_C200632 NCIT_P321 "16" @default.
- NCIT_C200632 NCIT_R130 NCIT_C20633 @default.
- NCIT_C200632 NCIT_R130 NCIT_C38779 @default.
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- NCIT_C200632 NCIT_R37 NCIT_C28498 @default.
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- NCIT_C200632 NCIT_R40 NCIT_C12219 @default.
- NCIT_C200632 NCIT_R40 NCIT_C13282 @default.
- NCIT_C200632 NCIT_R40 NCIT_C13377 @default.
- NCIT_C200632 NCIT_R40 NCIT_C13432 @default.
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- NCIT_C200632 NCIT_R40 NCIT_C14135 @default.
- NCIT_C200632 NCIT_R40 NCIT_C32221 @default.
- NCIT_C200632 NCIT_R40 NCIT_C34070 @default.
- NCIT_C200632 NCIT_R41 NCIT_C14182 @default.
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- NCIT_C200632 NCIT_R41 NCIT_C14234 @default.
- NCIT_C200632 NCIT_R41 NCIT_C14250 @default.
- NCIT_C200632 NCIT_R41 NCIT_C14262 @default.
- NCIT_C200632 NCIT_R41 NCIT_C14282 @default.
- NCIT_C200632 NCIT_R41 NCIT_C25796 @default.
- NCIT_C200632 NCIT_R41 NCIT_C79740 @default.
- NCIT_C200632 normalizedInformationContent "100" @default.
- NCIT_C200632 referenceCount "1" @default.
- NCIT_C200632 hasExactSynonym "AARS" @default.
- NCIT_C200632 hasExactSynonym "AARS1 wt Allele" @default.
- NCIT_C200632 hasExactSynonym "ALARS" @default.
- NCIT_C200632 hasExactSynonym "Alanine tRNA Ligase 1, Cytoplasmic Gene" @default.
- NCIT_C200632 hasExactSynonym "Alanyl-tRNA Synthetase 1 wt Allele" @default.
- NCIT_C200632 hasExactSynonym "Alanyl-tRNA Synthetase, Cytoplasmic Gene" @default.
- NCIT_C200632 hasExactSynonym "CMT2N" @default.
- NCIT_C200632 hasExactSynonym "DEE29" @default.
- NCIT_C200632 hasExactSynonym "EIEE29" @default.
- NCIT_C200632 hasExactSynonym "HDLS2" @default.
- NCIT_C200632 hasExactSynonym "TTD8" @default.
- NCIT_C200632 type Class @default.
- NCIT_C200632 isDefinedBy ncit.owl @default.
- NCIT_C200632 label "AARS1 wt Allele" @default.
- NCIT_C200632 subClassOf NCIT_C16612 @default.
- NCIT_C200632 subClassOf NCIT_C200631 @default.
- NCIT_C200632 subClassOf NCIT_C200632 @default.
- NCIT_C200632 subClassOf NCIT_C21281 @default.
- NCIT_C200632 subClassOf NCIT_C25943 @default.
- NCIT_C200632 equivalentClass B1821c921bf46bdd1e1cce3c11945f1dc @default.
- NCIT_C200632 equivalentClass B2d50884601ba474164e3c85b76e18c06 @default.