Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion> ?p ?o ?g. }
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- NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_assertion type Assertion NP395793.RA5pGdP0MTRNOdfBWSw4RX4i4r-4aWlAUskx76R_8AAZQ130_head.
- 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.