Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_assertion description "[In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_assertion evidence source_evidence_curated NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_assertion SIO_000772 23566282 NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_assertion wasDerivedFrom uniprot-2016 NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_assertion wasGeneratedBy ECO_0000218 NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.