Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP647100.RAIPcN_GcQ6TIxnd2xS-ST_R5_tBYXONef5DHI29JgkVM#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23403440 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.