Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_assertion description "[We further confirm both the involvement of AFG3L2 gene in SCA28 and the presence of a mutational hotspot in exons 15-16.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_assertion evidence source_evidence_curated NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_assertion SIO_000772 20725928 NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_assertion wasDerivedFrom uniprot-2016 NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_assertion wasGeneratedBy ECO_0000218 NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6326.RAyYT0y9dlsFPR2sjNmSnXkcJmQGCgsOmN0nKZibbYp7k130_provenance.