Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP444139.RAq_BQIfFPRZR3MuJhs6IiUmMZ-fsCsTfehEC6GCLS1aM#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the ?-galactosidase A gene often result in a high residual leukocyte ?-galactosidase A and it is unclear whether these individuals suffer from FD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25187469 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.