Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion wasGeneratedBy ECO_0000203 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion wasDerivedFrom lhgdn-20090331 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion SIO_000772 18021921 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion evidence source_evidence_literature NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion description "[The novel T1174S missense mutation of SCN1A gene was detected segregating in a family with a heterozygous female child and in her heterozygous mother, who had an ataxic migraine syndrome similar to that of her own mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.