Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion> ?p ?o ?g. }
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- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion type Assertion NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_head.
- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_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." NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_provenance.
- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion evidence source_evidence_literature NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_provenance.
- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion SIO_000772 10029606 NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_provenance.
- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion wasDerivedFrom befree-20150227 NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_provenance.
- NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_assertion wasGeneratedBy ECO_0000203 NP233250.RAcPXwtb4j6mBYhMoEP_Kx2pwZ4eTLRgnCzuZ4WV1WdjA130_provenance.