Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_assertion wasGeneratedBy ECO_0000218 NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_assertion wasDerivedFrom uniprot-20150221 NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_assertion SIO_000772 16429157 NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_assertion evidence source_evidence_curated NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.
- NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_assertion description "[We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP113.RACJtCtKZHH17F7b92EJHnzgFJNSzQ-cCAaUgnxO0XdrQ130_provenance.