Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion> ?p ?o ?g. }
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- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion type Assertion NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_head.
- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion wasGeneratedBy ECO_0000203 NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_provenance.
- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion wasDerivedFrom befree-20150227 NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_provenance.
- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion SIO_000772 20370797 NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_provenance.
- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_assertion evidence source_evidence_literature NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_provenance.
- NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_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." NP386045.RAKykcAM8JE9giTpcLdlf-YngO_VAV41lb7TthengMmmU130_provenance.