Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_assertion description "[Protein expression studies in nine cases suggested a correlation between specific mutations, RyR1 protein levels and resulting phenotype: in particular, whilst patients with dominant or recessive mutations associated with typical CCD phenotypes appeared to have normal RyR1 expression, individuals with more generalized weakness, multi-minicores and external ophthalmoplegia had a pronounced depletion of the RyR1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_assertion evidence source_evidence_literature NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_assertion SIO_000772 17483490 NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_assertion wasDerivedFrom befree-2016 NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_assertion wasGeneratedBy ECO_0000203 NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.
- befree-2016 importedOn "2016-02-19" NP608534.RAYOmJ_ce2V_mgywcFCKR4A3O61F44XhxM6gaA1D74jTs130_provenance.