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- source_evidence_literature type ECO_0000212 NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_assertion description "[These results demonstrate the importance of ACVRL1 and ENG mutations in German hereditary hemorrhagic telangiectasia (HHT) patients displaying mutation frequencies over 80%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_assertion evidence source_evidence_literature NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_assertion SIO_000772 15880681 NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_assertion wasDerivedFrom lhgdn-20090331 NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_assertion wasGeneratedBy ECO_0000203 NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP215830.RAx2wL55ZuT9ydHQX-AoGmf601sBwLftP04F-IGiV4OxA130_provenance.