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- B006529eea7ed42cfe2f268ad5f22b6ef NCIT_P378 "NCI" @default.
- B006529eea7ed42cfe2f268ad5f22b6ef type Axiom @default.
- B006529eea7ed42cfe2f268ad5f22b6ef annotatedProperty IAO_0000115 @default.
- B006529eea7ed42cfe2f268ad5f22b6ef annotatedSource NCIT_C185460 @default.
- B006529eea7ed42cfe2f268ad5f22b6ef annotatedTarget "A cytogenetic abnormality where one copy of chromosome 16 has a 3.7 kb chromosomal deletion in the vicinity of 16p13.3, which is the region containing the 2 genes that encode hemoglobin subunit alpha (HBA; alpha-globin), HBA1 and HBA2. This chromosomal deletion either deletes one of these two genes (usually HBA1) or results in a single copy of a functional, in-frame fusion of the two HBA genes." @default.