Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_assertion description "[Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_assertion evidence source_evidence_curated NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_assertion SIO_000772 23910461 NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_assertion wasDerivedFrom uniprot-2016 NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_assertion wasGeneratedBy ECO_0000218 NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7604.RA48K56QElbTXrNNcZ7gBFH5gd8FROUd1XfqFlwTR2daM130_provenance.