Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1306373.RAPNfRD-uCXG5oAh1N6pKx5Xlpl45eJgzqMEuDZeO2TwU#assertion> ?p ?o ?g. }
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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 "[NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.