Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion wasGeneratedBy ECO_0000218 NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion wasDerivedFrom uniprot-2016 NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion SIO_000772 14962902 NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion evidence source_evidence_curated NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.
- NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion description "[By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance.