Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_assertion description "[SOX10 mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and partial forms of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_assertion evidence source_evidence_literature NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_assertion SIO_000772 24845202 NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_assertion wasDerivedFrom befree-2016 NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_assertion wasGeneratedBy ECO_0000203 NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1184099.RA-bVyBgV6LyFcb9DoyFyts6Y9T2HPhkn_DKpCN7xu3eQ130_provenance.