Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_assertion description "[This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_assertion evidence source_evidence_literature NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_assertion SIO_000772 18852439 NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_assertion wasDerivedFrom befree-20140225 NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_assertion wasGeneratedBy ECO_0000203 NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP324474.RAVnrJKJXnU2XPzNKDZ3b2jgEeP_L7VUKpQ8XDWBjJXWc130_provenance.