Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion> ?p ?o ?g. }
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- NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion type Assertion NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_head.
- 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.