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- source_evidence_literature type ECO_0000212 NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_assertion wasGeneratedBy ECO_0000203 NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_assertion wasDerivedFrom befree-20150227 NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_assertion SIO_000772 20370797 NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_assertion evidence source_evidence_literature NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.
- NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_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." NP928023.RAuwbaV6tyawkr65i-oaSf5QhKDueWjr1qOHGX_lyC6GA130_provenance.