Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion> ?p ?o ?g. }
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- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion type Assertion NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_head.
- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion wasGeneratedBy ECO_0000203 NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_provenance.
- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion wasDerivedFrom befree-20150227 NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_provenance.
- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion SIO_000772 12044915 NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_provenance.
- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_assertion evidence source_evidence_literature NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_provenance.
- NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_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." NP442123.RACKRG6-zlupgtWCH0VNpxDp7PMmJAEIMVy3hGfHBueko130_provenance.