Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_assertion description "[New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_assertion evidence source_evidence_curated NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_assertion SIO_000772 21252495 NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_assertion wasDerivedFrom uniprot-20130724 NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_assertion wasGeneratedBy ECO_0000218 NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP298.RArqqQzYF2QirvwnBuH4TcmqRwUP7Ck-K-Mwn_vhfxD9Y130_provenance.