Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_assertion description "[A nonsense mutation of PEPD in four Amish children with prolidase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_assertion evidence source_evidence_curated NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_assertion SIO_000772 16470701 NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_assertion wasDerivedFrom ctd_human-20150221 NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_assertion wasGeneratedBy ECO_0000218 NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP25557.RAgvDfNZ2_XF7uFBJBNDbxHKRhzVsZQ80VlQHwKEP6suc130_provenance.