Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion> ?p ?o ?g. }
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- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion type Assertion NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_head.
- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_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." NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_provenance.
- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion evidence source_evidence_literature NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_provenance.
- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion SIO_000772 20573681 NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_provenance.
- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion wasDerivedFrom befree-20150227 NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_provenance.
- NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_assertion wasGeneratedBy ECO_0000203 NP230915.RAPx-wzis5J0RwELF2XRHu-U3oK6NjBIucn7hXIlC--Uk130_provenance.