Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_assertion description "[Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_assertion evidence source_evidence_literature NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_assertion SIO_000772 19429912 NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_assertion wasDerivedFrom befree-2016 NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_assertion wasGeneratedBy ECO_0000203 NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.
- befree-2016 importedOn "2016-02-19" NP737805.RA6IvyY59rWJ6GdGxHE_Xat6aXa5SFcXcjHXSUwZ_E6lg130_provenance.