Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion> ?p ?o ?g. }
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- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion type Assertion NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_head.
- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion description "[An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_provenance.
- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion evidence source_evidence_literature NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_provenance.
- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion SIO_000772 25481286 NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_provenance.
- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion wasDerivedFrom befree-20150227 NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_provenance.
- NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_assertion wasGeneratedBy ECO_0000203 NP396270.RAQj7kyskHjg6oTS7dLYrN-v0aGf9VBOC4THR8pX58gdk130_provenance.