Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion> ?p ?o ?g. }
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- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion type Assertion NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_head.
- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion description "[DAX1 (for dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on the X chromosome, gene 1; also called NROB1) mutations are responsible for adrenal failure and hypogonadotropic hypogonadism in patients with adrenal hypoplasia congenita (AHC), through a loss of trans-repression of SF-1 (for steroidogenic factor-1)-mediated StAR (for steroidogenic acute regulatory protein) and LHbeta transcriptional activities and a reduction of GnRH expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_provenance.
- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion evidence source_evidence_literature NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_provenance.
- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion SIO_000772 20573681 NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_provenance.
- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion wasDerivedFrom befree-20140225 NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_provenance.
- NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_assertion wasGeneratedBy ECO_0000203 NP849837.RA-wLNE6a8cv95WMelJ5YOveeQHHutu5gbv8oKv6BGakA130_provenance.