Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9cd7a491fbd0c115751f3cdb57b0e9e9> ?p ?o ?g. }
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- B9cd7a491fbd0c115751f3cdb57b0e9e9 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 hasDbXref "https://orcid.org/0000-0001-7090-9648" @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 hasDbXref "https://orcid.org/0000-0002-6601-2165" @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 type Axiom @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 annotatedProperty IAO_0000115 @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 annotatedSource MONDO_0100135 @default.
- B9cd7a491fbd0c115751f3cdb57b0e9e9 annotatedTarget "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." @default.