Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion> ?p ?o ?g. }
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- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion type Assertion NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_head.
- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion description "[Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_provenance.
- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion evidence source_evidence_curated NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_provenance.
- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion SIO_000772 12189163 NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_provenance.
- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion wasDerivedFrom ctd_human-20130708 NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_provenance.
- NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_assertion wasGeneratedBy ECO_0000218 NP15536.RAR-Wm4zkpHOnR8h2IvEz9b8ezJfmo-T9xg036XYjZX7A130_provenance.