Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_assertion description "[A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_assertion evidence source_evidence_curated NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_assertion SIO_000772 10577279 NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_assertion wasDerivedFrom uniprot-20130724 NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_assertion wasGeneratedBy ECO_0000218 NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP297.RAhcrQ_6eNZwOH-MYGYTyETXDBqRP3tQkNFtmAvYZv1M8130_provenance.