Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion> ?p ?o ?g. }
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- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion type Assertion NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_head.
- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion wasGeneratedBy ECO_0000203 NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_provenance.
- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion wasDerivedFrom befree-2016 NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_provenance.
- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion SIO_000772 23969157 NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_provenance.
- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion evidence source_evidence_literature NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_provenance.
- NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_assertion description "[Mutations in the G-protein-coupled receptor PROKR2 have been identified in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) manifesting with delayed puberty and infertility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1104448.RAVE2zsuTo1I4rQOkIIQT1Lt8aI0mmYTQOeGdHjDGX-xs130_provenance.