Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_assertion description "[A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_assertion evidence source_evidence_curated NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_assertion SIO_000772 19339291 NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_assertion wasDerivedFrom uniprot-2016 NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_assertion wasGeneratedBy ECO_0000218 NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5755.RATUrQdtV9pLXnCMH05W-d6iF0LXMsuEEIeEpdUme8804130_provenance.