Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion> ?p ?o ?g. }
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- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion type Assertion NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_head.
- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion description "[A novel missense mutation, G663A, in exon 5 of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) was identified in a Japanese male with pyridoxine-responsive sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_provenance.
- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion evidence source_evidence_literature NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_provenance.
- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion SIO_000772 10577279 NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_provenance.
- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion wasDerivedFrom befree-2016 NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_provenance.
- NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_assertion wasGeneratedBy ECO_0000203 NP268583.RAjtok1b1FJlzFZjp7GKgi-tHNIP4am-5IY7k7EJYwSdw130_provenance.