Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion> ?p ?o ?g. }
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- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion type Assertion NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_head.
- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion wasGeneratedBy ECO_0000203 NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_provenance.
- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion wasDerivedFrom befree-20150227 NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_provenance.
- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion SIO_000772 12044915 NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_provenance.
- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion evidence source_evidence_literature NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_provenance.
- NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_assertion description "[Mutations in the StAR gene were found to be the cause of the potentially lethal disease in humans known as congenital lipoid adrenal hyperplasia (lipoid CAH), a condition characterized by an almost complete inability of the newborn to synthesize steroids.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715385.RA21TJzCT06E-2IgN4d555zLowLACKH3sqtjhyeUbLevw130_provenance.