Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_assertion wasGeneratedBy ECO_0000218 NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_assertion wasDerivedFrom uniprot-2016 NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_assertion SIO_000772 22971997 NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_assertion evidence source_evidence_curated NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.
- NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_assertion description "[A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7208.RAv1hKpcXkIrnzOQylcTo9W75Xrij1yUamq5fb2un27Q8130_provenance.