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- B68bda1e9f8a934173efeda4c278dbde7 NCIT_P378 "NCI" @default.
- B68bda1e9f8a934173efeda4c278dbde7 type Axiom @default.
- B68bda1e9f8a934173efeda4c278dbde7 annotatedProperty IAO_0000115 @default.
- B68bda1e9f8a934173efeda4c278dbde7 annotatedSource NCIT_C190625 @default.
- B68bda1e9f8a934173efeda4c278dbde7 annotatedTarget "Human CPS1 wild-type allele is located in the vicinity of 2q34 and is approximately 201 kb in length. This allele, which encodes carbamoyl-phosphate synthase [ammonia], mitochondrial protein, is involved in the metabolism of nitrogenous toxins. Loss of function mutations in the gene are associated with carbamoylphosphate synthetase I deficiency and increased susceptibility both to persistent neonatal pulmonary hypertension and to venoocclusive disease after bone marrow transplantation." @default.