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- source_evidence_literature type ECO_0000212 NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_assertion description "[A branch-site mutation leading to abnormal splicing of exon 13 of the endoglin transcript was identified in a child with hereditary hemorrhagic telangiectasia related pulmonary arterial hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_assertion evidence source_evidence_literature NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
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- NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_assertion wasDerivedFrom lhgdn-20090331 NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_assertion wasGeneratedBy ECO_0000203 NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP186609.RAXjjs8zlPalAURumXL26CPL2nUHtjWlg-DEN-vTDCV3g130_provenance.