Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion> ?p ?o ?g. }
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- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion type Assertion NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_head.
- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion wasGeneratedBy ECO_0000203 NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_provenance.
- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion wasDerivedFrom befree-2016 NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_provenance.
- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion SIO_000772 12044915 NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_provenance.
- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_assertion evidence source_evidence_literature NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_provenance.
- NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_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." NP356727.RABw3CzmpLEhtrvnQNd_BXNE0mGBQ71KEx8MGzr8VPNgs130_provenance.