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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21544567 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were reported with skeletal and cardiac muscle disease only.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.