Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_assertion type Assertion NP543496.RAYZy0fN9MwmdQbzZRkfr2JuQu3kMoEeOFcmM_8ofwhNk130_head.
- 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.