Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_assertion wasGeneratedBy ECO_0000218 NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_assertion wasDerivedFrom uniprot-2016 NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_assertion SIO_000772 9067760 NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_assertion evidence source_evidence_curated NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.
- NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_assertion description "[E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9332.RACGaMfxaWsh3SyZEuQJEAcm6feP3hY3LZVhGPJuBi-SM130_provenance.