Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion description "[A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion evidence source_evidence_curated NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion SIO_000772 12031592 NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion wasDerivedFrom uniprot-20130724 NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion wasGeneratedBy ECO_0000218 NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.