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- B6f857f9638f6d783f9dfbefd4481a215 NCIT_P378 "NCI" @default.
- B6f857f9638f6d783f9dfbefd4481a215 type Axiom @default.
- B6f857f9638f6d783f9dfbefd4481a215 annotatedProperty IAO_0000115 @default.
- B6f857f9638f6d783f9dfbefd4481a215 annotatedSource NCIT_C185461 @default.
- B6f857f9638f6d783f9dfbefd4481a215 annotatedTarget "A complex cytogenetic abnormality where one copy of chromosome 16 has undergone chromosomal rearrangement 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 rearrangement results in amplification of a 3.7 kb fragment containing of one of the HBA genes (usually HBA2) and may lead to simultaneous deletion of the other HBA gene (usually HBA1)." @default.