Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_assertion wasGeneratedBy ECO_0000203 NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_assertion wasDerivedFrom befree-20140225 NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_assertion SIO_000772 17720887 NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_assertion evidence source_evidence_literature NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_assertion description "[Heterozygous mutations in JAGGED1, encoding a single-pass transmembrane ligand for the Notch receptors, cause Alagille syndrome (AGS), a polymalformative disorder affecting the liver, heart, eyes and skeleton and characterized by a peculiar facies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP309848.RA80rskOuCRXr61B5mHgQaDTjUWrD1A2EmE9G_axYRLmg130_provenance.