Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion description "[Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion evidence source_evidence_curated NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion SIO_000772 10029606 NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion wasDerivedFrom uniprot-20150221 NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion wasGeneratedBy ECO_0000218 NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_provenance.