Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_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." NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_assertion evidence source_evidence_literature NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_assertion SIO_000772 16302874 NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_assertion wasDerivedFrom befree-20140225 NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_assertion wasGeneratedBy ECO_0000203 NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP761023.RAnz25pezt-x4VQ2SGn77GL5Ed6qxwaGZqRnRG7vApCvE130_provenance.