Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_assertion description "[Several missense mutations of the (Na(+))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS+2 families at chromosome 2q23-q24.3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_assertion evidence source_evidence_literature NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_assertion SIO_000772 11823106 NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_assertion wasDerivedFrom befree-20140225 NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_assertion wasGeneratedBy ECO_0000203 NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP580632.RAI6EcjykhCotyphZZn4H2Jj6pI4QeCtuoi-KxMF9vBgY130_provenance.