Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion> ?p ?o ?g. }
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- NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_assertion type Assertion NP5752.RAF74dHhPm5Tk5y4zCb-7fDJ-Uio6k0vmYYBMiuqfmLCU130_head.
- 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.