Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion> ?p ?o ?g. }
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- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion type Assertion NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_head.
- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_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." NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_provenance.
- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion evidence source_evidence_curated NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_provenance.
- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion SIO_000772 12189163 NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_provenance.
- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion wasDerivedFrom ctd_human-20130708 NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_provenance.
- NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_assertion wasGeneratedBy ECO_0000218 NP15530.RA5-NWgqgAhJOU0ljlE9ljCL6H3wXOhBU-gI9AblMHEZI130_provenance.