Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion description "[Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion evidence source_evidence_curated NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion SIO_000772 8580427 NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion wasDerivedFrom uniprot-20130724 NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion wasGeneratedBy ECO_0000218 NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_provenance.