Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- befree-2016 importedOn "2016-02-19" NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_assertion wasGeneratedBy ECO_0000203 NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_assertion wasDerivedFrom befree-2016 NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_assertion SIO_000772 15263074 NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_assertion evidence source_evidence_literature NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.
- NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_assertion description "[Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP452659.RABk65lcg3r0Wkt1wgmdZ8MKWKJV_5Pe4Kz1ewCTtCj9s130_provenance.