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- source_evidence_literature type ECO_0000212 NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_assertion description "[ In this study in the Czech population we identified 22 mutations (six of which were new mutations). The prevalence of PKD2 cases was 18-20% and the mean age of ESRF was 68.3 years. An at-least weak hot spot in exon 1 of the PKD2 gene was found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_assertion evidence source_evidence_literature NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_assertion SIO_000772 14993477 NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_assertion wasDerivedFrom gad-20150221 NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_assertion wasGeneratedBy ECO_0000203 NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.
- gad-20150221 importedOn "2015-02-21" NP66522.RA5dnmTJRdf2rXe29XN54WDn3E5una1_1ca_m9iHs-jdc130_provenance.