Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_assertion description "[To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_assertion evidence source_evidence_literature NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_assertion SIO_000772 12083760 NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_assertion wasDerivedFrom befree-20140225 NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_assertion wasGeneratedBy ECO_0000203 NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP600666.RARclCi1E0Scgd2EqM6NONsus9FW_kCa__5Fqf43jltcA130_provenance.