Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion> ?p ?o ?g. }
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- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion type Assertion NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_head.
- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion wasGeneratedBy ECO_0000203 NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_provenance.
- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion wasDerivedFrom befree-2016 NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_provenance.
- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion SIO_000772 20370797 NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_provenance.
- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_assertion evidence source_evidence_literature NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_provenance.
- NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_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." NP804312.RAq_6d4OVN685KSs4dpJMCABv8O0daajx1jI8etBhqXOI130_provenance.