Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion> ?p ?o ?g. }
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- NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion type Assertion NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_head.
- 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.