Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_assertion description "[PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_assertion evidence source_evidence_literature NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_assertion SIO_000772 14597037 NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_assertion wasDerivedFrom lhgdn-20090331 NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_assertion wasGeneratedBy ECO_0000203 NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP202014.RAnYBt3cRC7g-lQBYGsT01_3vB1gRHz3r1TC8RYJfXElk130_provenance.