Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion> ?p ?o ?g. }
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- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion type Assertion NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_head.
- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_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." NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_provenance.
- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion evidence source_evidence_literature NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_provenance.
- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion SIO_000772 25481286 NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_provenance.
- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion wasDerivedFrom befree-20150227 NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_provenance.
- NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_assertion wasGeneratedBy ECO_0000203 NP396204.RAOu6cCz3CmwIlum6utUSJxD9CvkwVys8bpn4go66BR4I130_provenance.