Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion> ?p ?o ?g. }
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- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion type Assertion NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_head.
- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_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." NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_provenance.
- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion evidence source_evidence_literature NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_provenance.
- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion SIO_000772 10029606 NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_provenance.
- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion wasDerivedFrom befree-2016 NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_provenance.
- NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_assertion wasGeneratedBy ECO_0000203 NP246361.RAXE-yg72x1EYGdpTIROaxUNJ5tYJjVsksfe3HRkc9r7k130_provenance.