Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion type Assertion NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_head.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_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." NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion evidence source_evidence_literature NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion SIO_000772 9554751 NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion wasDerivedFrom befree-20140225 NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion wasGeneratedBy ECO_0000203 NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.