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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17187067 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as ATGL).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.