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- B0d40366d912efbb4e65387fb441a9b8d NCIT_P378 "NCI" @default.
- B0d40366d912efbb4e65387fb441a9b8d type Axiom @default.
- B0d40366d912efbb4e65387fb441a9b8d annotatedProperty IAO_0000115 @default.
- B0d40366d912efbb4e65387fb441a9b8d annotatedSource NCIT_C104771 @default.
- B0d40366d912efbb4e65387fb441a9b8d annotatedTarget "Human RRM2B wild-type allele is located in the vicinity of 8q23.1 and is approximately 35 kb in length. This allele, which encodes ribonucleoside-diphosphate reductase subunit M2 B protein, is involved in generation of deoxyribonucleoside diphosphates. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy." @default.