Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_assertion description "[We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_assertion evidence source_evidence_literature NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_assertion SIO_000772 19461874 NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_assertion wasDerivedFrom befree-20150227 NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_assertion wasGeneratedBy ECO_0000203 NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP680113.RAHAMXNz6WDksHzopLKarppx1MpeW6l7sy3Ml0Yb1kNKE130_provenance.