Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion> ?p ?o ?g. }
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- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion type Assertion NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_head.
- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_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." NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_provenance.
- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion evidence source_evidence_literature NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_provenance.
- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion SIO_000772 20573681 NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_provenance.
- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion wasDerivedFrom befree-2016 NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_provenance.
- NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_assertion wasGeneratedBy ECO_0000203 NP820978.RAwKNmA8RKRO-r2VRVPxLL8KuqshLN_B46cIKn25vEYbQ130_provenance.