Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion description "[The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion evidence source_evidence_curated NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion SIO_000772 17347258 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion wasDerivedFrom uniprot-2016 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion wasGeneratedBy ECO_0000218 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.