Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_assertion description "[Mutations in the specific delta-aminolevulinic acid synthase (ALAS) 2 isoform that catalyses the first and rate-limiting step in heme synthesis pathway in the mitochondrial matrix, lead to ineffective erythropoiesis that characterizes X-linked sideroblastic anemia (XLSA), the most common inherited sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_assertion evidence source_evidence_curated NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_assertion SIO_000772 16892088 NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_assertion wasDerivedFrom ctd_human-20150221 NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_assertion wasGeneratedBy ECO_0000218 NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP6497.RAIAcqnzWXA49Jebx18FFXD6t01x0O9pP9Ykp2g0lTSTU130_provenance.