Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion wasGeneratedBy ECO_0000203 NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion wasDerivedFrom befree-20150227 NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion SIO_000772 12203992 NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion evidence source_evidence_literature NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.
- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion description "[Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_provenance.