Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_assertion wasGeneratedBy ECO_0000218 NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_assertion wasDerivedFrom ctd_human-20150221 NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_assertion SIO_000772 18230692 NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_assertion evidence source_evidence_curated NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.
- NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_assertion description "[The most common mutation (F508del) causing cystic fibrosis (CF) results in misfolding of the CF transmembrane conductance regulator (CFTR), leading to its degradation via the proteasome pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10234.RAVmTS3EMafPRvFh_8vrr46fJ84sA_aV_LXQd3kWvjIoY130_provenance.