Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion description "[Mutations of SCN1A, encoding the voltage-gated sodium channel alpha1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion evidence source_evidence_literature NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion SIO_000772 18755274 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion wasDerivedFrom befree-20140225 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_assertion wasGeneratedBy ECO_0000203 NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP515482.RA1giGyBSQyxjzlc1fCW6AXRdMl4xEBmswRrpFzLJ7cRs130_provenance.