Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion> ?p ?o ?g. }
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- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion type Assertion NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_head.
- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion description "[Mutations in major structural components of elastic fibres, especially elastin, fibrillins and fibulin-5, cause severe, often life-threatening, heritable connective tissue diseases such as Marfan syndrome, supravalvular aortic stenosis and cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_provenance.
- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion evidence source_evidence_literature NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_provenance.
- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion SIO_000772 16893474 NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_provenance.
- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion wasDerivedFrom befree-20140225 NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_provenance.
- NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_assertion wasGeneratedBy ECO_0000203 NP735592.RAHKWzVyO11jKOzfC6zp5nVSTFoiGJVETpLCx-2OsywGA130_provenance.