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- B118e6cca48c49a15f4395f67618725d6 NCIT_P378 "NCI" @default.
- B118e6cca48c49a15f4395f67618725d6 type Axiom @default.
- B118e6cca48c49a15f4395f67618725d6 annotatedProperty IAO_0000115 @default.
- B118e6cca48c49a15f4395f67618725d6 annotatedSource NCIT_C152095 @default.
- B118e6cca48c49a15f4395f67618725d6 annotatedTarget "Human NHP2 wild-type allele is located in the vicinity of 5q35.3 and is approximately 5 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 2 protein, plays a role in both ribosome biogenesis and telomere maintenance. Mutation of the gene is associated with autosomal recessive dyskeratosis congenita type 2." @default.