Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_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." NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_assertion evidence source_evidence_curated NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_assertion SIO_000772 15800903 NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_assertion wasDerivedFrom uniprot-2016 NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_assertion wasGeneratedBy ECO_0000218 NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3970.RAoy24xE7bDnVgyd9rePqP4gK-tFEi7lP_AqnKLz-mnSQ130_provenance.