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- source_evidence_literature type ECO_0000212 NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- befree-2016 importedOn "2016-02-19" NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_assertion wasGeneratedBy ECO_0000203 NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_assertion wasDerivedFrom befree-2016 NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_assertion SIO_000772 20370797 NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_assertion evidence source_evidence_literature NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.
- NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_assertion description "[Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804310.RAmVAecFVijhhL0_EJdO22Z770w2lga7pzkx24sNOG1dg130_provenance.