Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_assertion description "[We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_assertion evidence source_evidence_curated NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_assertion SIO_000772 18411068 NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_assertion wasDerivedFrom ctd_human-20150221 NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_assertion wasGeneratedBy ECO_0000218 NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP19627.RA5GjQwxXZ9FANSyQCi1nJ5DUevXi7X_95W2_vPH6say0130_provenance.