Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP647071.RARvV2J938bMmb0apcg15z_hXn0HMkEJc2z88nsrcRUPg#assertion> ?p ?o ?g. }
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- assertion description "[The molecular defects in the gene encoding the lysosomal acid lipase (LAL) were investigated in an adult male patient affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL deficient activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 9554751 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.