Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_assertion description "[Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_assertion evidence source_evidence_curated NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_assertion SIO_000772 15800903 NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_assertion wasDerivedFrom uniprot-20150221 NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_assertion wasGeneratedBy ECO_0000218 NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2883.RAmk6XBHh4Re1wr1hVpLEDtrZ-RMxA3bhQbyqmMZs0E5s130_provenance.