Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_assertion description "[The enzymatic steps impaired in these inborn errors of metabolism include mevolonate kinase (mevalonic aciduria as well as hyperimmunoglobulinemia D and periodic fever syndrome), squalene synthase (Ss-/- mouse), 3beta-hydroxysteroid Delta14-reductase (hydrops-ectopic calcification-moth-eaten skeletal dysplasia), 3beta-hydroxysteroid dehydrogenase (CHILD syndrome, bare patches mouse, and striated mouse), 3beta-hydroxysteroid Delta8,Delta7-isomerase (X-linked dominant chondrodysplasia punctata type 2, CHILD syndrome, and tattered mouse), 3beta-hydroxysteroid Delta24-reductase (desmosterolosis) and 3beta-hydroxysteroid Delta7-reductase (RSH/Smith-Lemli-Opitz syndrome and Dhcr7-/- mouse).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_assertion evidence source_evidence_literature NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_assertion SIO_000772 11592808 NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_assertion wasDerivedFrom befree-20140225 NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_assertion wasGeneratedBy ECO_0000203 NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP912387.RAKf4gpGniBXyTWCIU8ikrOsehRAy_OKyTsZBLrA_3-FQ130_provenance.