Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion description "[These studies further define the molecular heterogeneity of the alpha-Gal A mutations in classical Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and provide insights into the structural alterations of the mutant enzymes that cause the classic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion evidence source_evidence_literature NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion SIO_000772 16595074 NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion wasDerivedFrom befree-2016 NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion wasGeneratedBy ECO_0000203 NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.
- befree-2016 importedOn "2016-02-19" NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_provenance.