Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_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." NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion evidence source_evidence_literature NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion SIO_000772 16302874 NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion wasDerivedFrom befree-20140225 NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion wasGeneratedBy ECO_0000203 NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance.