Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_assertion description "[A missense mutation was identified in the voltage-gated sodium (Na(+))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS+1) family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_assertion evidence source_evidence_literature NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_assertion SIO_000772 11823106 NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_assertion wasDerivedFrom befree-20140225 NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_assertion wasGeneratedBy ECO_0000203 NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP323733.RA7ma1cODkVy2KmO8Qb4bkcYk_xINjQ4wXVByRN5Xk3bQ130_provenance.