Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228386.RA_36GmmPGqiC4dJk8HLNaPBo-2FgRLcyZGOYVKEHi-Hw#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 1635348 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in the COL4A5 collagen gene have been implicated as the primary defect in Alport syndrome, a heritable disorder characterized by sensorineural deafness and glomerulonephritis that progresses to end-stage renal failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.