Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion type Assertion NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_head.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion description "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion evidence source_evidence_literature NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion SIO_000772 16302874 NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion wasDerivedFrom befree-20140225 NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance.
- NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion wasGeneratedBy ECO_0000203 NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance.