Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_assertion description "[A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_assertion evidence source_evidence_literature NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_assertion SIO_000772 15864348 NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_assertion wasDerivedFrom befree-20140225 NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_assertion wasGeneratedBy ECO_0000203 NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP718775.RAv0irbKlFcWBGGk6zAl3aZ2l9wi6VG5_FnBfNqNlrua4130_provenance.