Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_assertion description "[Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_assertion evidence source_evidence_curated NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_assertion SIO_000772 9758621 NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_assertion wasDerivedFrom uniprot-20130724 NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_assertion wasGeneratedBy ECO_0000218 NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2019.RAUOrxYq87StW6H3ykKstzV2WjXEStIaejKODyzShy_5A130_provenance.