Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion> ?p ?o ?g. }
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- NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_assertion type Assertion NP1944.RAGXwJA0400LvG0-ewIJ-umsdOZYs1mxQFz8tk8TGXCnk130_head.
- 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.