Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_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." NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_assertion evidence source_evidence_literature NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_assertion SIO_000772 22022284 NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_assertion wasDerivedFrom befree-20150227 NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_assertion wasGeneratedBy ECO_0000203 NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.
- befree-20150227 importedOn "2015-02-27" NP856470.RAQgQM5CtpWZ5dell67SMi2fKyqBhIFDoCCh704eowpog130_provenance.