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- Bf6f579401742d7642ef0463aa9b02573 NCIT_P378 "NCI" @default.
- Bf6f579401742d7642ef0463aa9b02573 type Axiom @default.
- Bf6f579401742d7642ef0463aa9b02573 annotatedProperty IAO_0000115 @default.
- Bf6f579401742d7642ef0463aa9b02573 annotatedSource NCIT_C201112 @default.
- Bf6f579401742d7642ef0463aa9b02573 annotatedTarget "Human EXOSC3 wild-type allele is located in the vicinity of 9p13.2 and is approximately 73 kb in length. This allele, which encodes exosome complex component RRP40 protein, is involved in the regulation of the exoribonuclease activity of the exosome. Mutation of the gene is associated with pontocerebellar hypoplasia type 1B." @default.