Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_assertion wasGeneratedBy ECO_0000218 NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_assertion wasDerivedFrom uniprot-20130724 NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_assertion SIO_000772 16429157 NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_assertion evidence source_evidence_curated NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_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." NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.