Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1459039.RAY_bvLhPcBmTaisLPMAbzS4yQbuKhUuZ2d10M64bFaao#assertion> ?p ?o ?g. }
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- assertion description "[KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10505700 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.