Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion description "[Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion evidence source_evidence_curated NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion SIO_000772 16439621 NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion wasDerivedFrom uniprot-20130724 NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion wasGeneratedBy ECO_0000218 NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.