Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_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." NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_assertion evidence source_evidence_literature NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_assertion SIO_000772 19461874 NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_assertion wasDerivedFrom befree-20140225 NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_assertion wasGeneratedBy ECO_0000203 NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP585389.RASQYMBQLJbiPE_JWc2s0_Hyffhogv43M8K3PbTDPm7QU130_provenance.