Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_assertion description "[SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_assertion evidence source_evidence_curated NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_assertion SIO_000772 19465911 NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_assertion wasDerivedFrom uniprot-20150221 NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_assertion wasGeneratedBy ECO_0000218 NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP6.RAZuRRWhDqwfoRLi9s5ehVdSWMJ5N1wftAmx7NdkJJc_s130_provenance.