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- source_evidence_literature type ECO_0000212 NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_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." NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_assertion evidence source_evidence_literature NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_assertion SIO_000772 19461874 NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_assertion wasDerivedFrom befree-2016 NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_assertion wasGeneratedBy ECO_0000203 NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.
- befree-2016 importedOn "2016-02-19" NP740544.RAyxaL4AN8cQ502h_nuUND3cnarIHS3IaKsExmPb6GNQU130_provenance.