Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_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." NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_assertion evidence source_evidence_literature NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_assertion SIO_000772 16302874 NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_assertion wasDerivedFrom befree-20140225 NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_assertion wasGeneratedBy ECO_0000203 NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP769564.RApRp0K_UwduJFlqvbnGSOMAnHcvF5mhQD6KCjvSn4LOM130_provenance.