Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_assertion description "[A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_assertion evidence source_evidence_curated NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_assertion SIO_000772 12031592 NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_assertion wasDerivedFrom uniprot-20150221 NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_assertion wasGeneratedBy ECO_0000218 NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1947.RA--Ds6m_bRceu16If2F8vEK9nFRcM9M3G4EGcAxpfdK0130_provenance.