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- source_evidence_literature type ECO_0000212 NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_assertion description "[Finally, we found that 2 previously characterized patients with SOX2 haploinsufficiency and associated hypogonadotrophic hypogonadism had a measurable response to gonadotropin-releasing hormone (GnRH) stimulation, suggesting that it is not the absence of gonadotroph differentiation, but rather the deficient hypothalamic stimulation of gonadotrophs, that underlies typical hypogonadotrophic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_assertion evidence source_evidence_literature NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_assertion SIO_000772 22945632 NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_assertion wasDerivedFrom befree-20150227 NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_assertion wasGeneratedBy ECO_0000203 NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP708188.RA2U6r-5fe3VRdhbYCO1dRkedesdGagNk0cDTfAWzum0M130_provenance.