Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion wasGeneratedBy ECO_0000218 NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion wasDerivedFrom uniprot-20130724 NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion SIO_000772 17555499 NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion evidence source_evidence_curated NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion description "[We identified 12 different MEN1 disease-causing mutations, seven of them previously unreported: 308delC; 375del21; 549A>T (I147F); 1243delA; 1348T>G (L413R); 1351T>C (L414P) and 1523G>T (W471C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.