Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion description "[A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion evidence source_evidence_literature NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion SIO_000772 16261627 NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion wasDerivedFrom befree-2016 NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion wasGeneratedBy ECO_0000203 NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.
- befree-2016 importedOn "2016-02-19" NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.