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- Bb2259585c1a23f45e28a5b3879299ee5 NCIT_P378 "NCI" @default.
- Bb2259585c1a23f45e28a5b3879299ee5 type Axiom @default.
- Bb2259585c1a23f45e28a5b3879299ee5 annotatedProperty IAO_0000115 @default.
- Bb2259585c1a23f45e28a5b3879299ee5 annotatedSource NCIT_C189076 @default.
- Bb2259585c1a23f45e28a5b3879299ee5 annotatedTarget "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.