Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_assertion description "[Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_assertion evidence source_evidence_literature NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_assertion SIO_000772 22022284 NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_assertion wasDerivedFrom befree-2016 NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_assertion wasGeneratedBy ECO_0000203 NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.
- befree-2016 importedOn "2016-02-19" NP933161.RATb9m9nPCEBvwYCYRpyQwgCViBvHQTtTQYW7Br0HRHDk130_provenance.