Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_assertion wasGeneratedBy ECO_0000203 NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_assertion wasDerivedFrom befree-20150227 NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_assertion SIO_000772 9359047 NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_assertion evidence source_evidence_literature NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.
- NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_assertion description "[Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP365223.RAj9DfMAKsKqXg_rpRVYCOq2pgOSkzvqwUZQUSqvbixtg130_provenance.