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- B6408ad6af3eb2a60622f3e381c838d04 NCIT_P378 "NCI" @default.
- B6408ad6af3eb2a60622f3e381c838d04 type Axiom @default.
- B6408ad6af3eb2a60622f3e381c838d04 annotatedProperty IAO_0000115 @default.
- B6408ad6af3eb2a60622f3e381c838d04 annotatedSource NCIT_C189081 @default.
- B6408ad6af3eb2a60622f3e381c838d04 annotatedTarget "Human CARS2 wild-type allele is located in the vicinity of 13q34 and is approximately 72 kb in length. This allele, which encodes cysteine-tRNA ligase, mitochondrial protein, plays a role in the synthesis of cysteinyl-tRNA(Cys) in the mitochondrion. Mutation of the gene is associated with combined oxidative phosphorylation deficiency 27." @default.