Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1a2a8f9db0520112d34fe1ca06512ae5> ?p ?o ?g. }
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- B1a2a8f9db0520112d34fe1ca06512ae5 NCIT_P378 "NCI" @default.
- B1a2a8f9db0520112d34fe1ca06512ae5 type Axiom @default.
- B1a2a8f9db0520112d34fe1ca06512ae5 annotatedProperty IAO_0000115 @default.
- B1a2a8f9db0520112d34fe1ca06512ae5 annotatedSource NCIT_C75462 @default.
- B1a2a8f9db0520112d34fe1ca06512ae5 annotatedTarget "A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene." @default.