Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion description "[A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion evidence source_evidence_curated NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion SIO_000772 16219735 NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion wasDerivedFrom uniprot-20130724 NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion wasGeneratedBy ECO_0000218 NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.