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- Be7fc14133523599deec89ac602fa2a1e NCIT_P378 "NCI" @default.
- Be7fc14133523599deec89ac602fa2a1e type Axiom @default.
- Be7fc14133523599deec89ac602fa2a1e annotatedProperty IAO_0000115 @default.
- Be7fc14133523599deec89ac602fa2a1e annotatedSource NCIT_C189081 @default.
- Be7fc14133523599deec89ac602fa2a1e 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.