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- B52fce488a4546b80da2b5559da9fd521 hasDbXref "PMID:26544041" @default.
- B52fce488a4546b80da2b5559da9fd521 hasDbXref "PMID:26645412" @default.
- B52fce488a4546b80da2b5559da9fd521 hasDbXref "PMID:26704558" @default.
- B52fce488a4546b80da2b5559da9fd521 hasDbXref "PMID:26993267" @default.
- B52fce488a4546b80da2b5559da9fd521 hasDbXref "PMID:27476654" @default.
- B52fce488a4546b80da2b5559da9fd521 type Axiom @default.
- B52fce488a4546b80da2b5559da9fd521 annotatedProperty comment @default.
- B52fce488a4546b80da2b5559da9fd521 annotatedSource MONDO_0100062 @default.
- B52fce488a4546b80da2b5559da9fd521 annotatedTarget "Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes." @default.