Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_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." NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_assertion evidence source_evidence_literature NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_assertion SIO_000772 10029606 NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_assertion wasDerivedFrom befree-20140225 NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_assertion wasGeneratedBy ECO_0000203 NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.
- befree-20140225 importedOn "2014-02-25" NP808959.RA7EQyGAD0mTf6bIXs3iaL2GdYH13i5AJ7IRv_WogAFho130_provenance.