Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfbdaf5fc5019a3b5adb0695c9bfce694> ?p ?o ?g. }
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- Bfbdaf5fc5019a3b5adb0695c9bfce694 NCIT_P378 "NCI" @default.
- Bfbdaf5fc5019a3b5adb0695c9bfce694 type Axiom @default.
- Bfbdaf5fc5019a3b5adb0695c9bfce694 annotatedProperty IAO_0000115 @default.
- Bfbdaf5fc5019a3b5adb0695c9bfce694 annotatedSource NCIT_C156941 @default.
- Bfbdaf5fc5019a3b5adb0695c9bfce694 annotatedTarget "Human USP18 wild-type allele is located in the vicinity of 22q11.2 and is approximately 27 kb in length. This allele, which encodes Ubl carboxyl-terminal hydrolase 18 protein, is involved in the cleavage of proteins conjugated with ubiquitin-like protein ISG15. Mutation of the gene is associated with pseudo-TORCH syndrome 2." @default.