Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP443045.RABb0emmf5aSDIwszJpSs6iA9Z9OF0AOW8h9-d7WtdqHQ#provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- assertion description "[De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 12548749 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- UNIPROT importedOn "2017-01-25" provenance.