Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion> ?p ?o ?g. }
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- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion type Assertion NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_head.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion description "[As a point mutation in alpha-GAL can lead to Fabry disease, we have catalogued and plotted the locations of 245 missense and nonsense mutations in the three-dimensional structure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion evidence source_evidence_literature NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion SIO_000772 15003450 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion wasDerivedFrom befree-20140225 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.
- NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_assertion wasGeneratedBy ECO_0000203 NP219524.RAzkk0vCsZaL_jiWEeGoLOgKrl7CjkExVWTZAtWdWtpOA130_provenance.