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- source_evidence_literature type ECO_0000212 NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance.