Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_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." NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_assertion evidence source_evidence_literature NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_assertion SIO_000772 10505700 NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_assertion wasDerivedFrom befree-20140225 NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_assertion wasGeneratedBy ECO_0000203 NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP539182.RAPfSKp0WbQc81djQVAqk97xPled4scPEmy7mTCHFfzSk130_provenance.