Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_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." NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_assertion evidence source_evidence_curated NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_assertion SIO_000772 16892088 NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_assertion wasDerivedFrom ctd_human-20130708 NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_assertion wasGeneratedBy ECO_0000218 NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP8268.RA9lVRJe4fI0IdszVcTQoj6GEWva_pe69jSi33J3kpf7M130_provenance.