Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion description "[We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion evidence source_evidence_curated NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion SIO_000772 15821733 NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion wasDerivedFrom uniprot-20130724 NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion wasGeneratedBy ECO_0000218 NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.