Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228379.RAimYKD6e78fGAUjTrErKGVXU4DjuFgEycOFRSwzi7W18#assertion> ?p ?o ?g. }
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- 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.