Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_assertion description "[We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_assertion evidence source_evidence_literature NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_assertion SIO_000772 7550232 NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_assertion wasDerivedFrom befree-20140225 NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_assertion wasGeneratedBy ECO_0000203 NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP442902.RAnBlxISSupzKVGRNtqVG9iTwcXMrn7J6Ft4h4P1ApvN8130_provenance.