Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion> ?p ?o ?g. }
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- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion type Assertion NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_head.
- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_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." NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_provenance.
- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion evidence source_evidence_literature NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_provenance.
- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion SIO_000772 11592808 NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_provenance.
- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion wasDerivedFrom befree-2016 NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_provenance.
- NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_assertion wasGeneratedBy ECO_0000203 NP332487.RAF6r9XsrnxwZxp2RNIj23oABu5E9P1jbVR7vlmmjzmQc130_provenance.