Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_assertion description "[The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_assertion evidence source_evidence_curated NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_assertion SIO_000772 18637800 NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_assertion wasDerivedFrom ctd_human-20130708 NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_assertion wasGeneratedBy ECO_0000218 NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP8271.RAv5zd0Th16EGMqCHfaQI11lWQdg9qrN6JtojzunLusII130_provenance.