Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion> ?p ?o ?g. }
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- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion type Assertion NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_head.
- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion description "[Loss-of-function mutations of the KAL1 gene are a known cause of Kallmann syndrome, a disorder characterized by the coexistence of hypogonadotropic hypogonadism and anosmia/hiposmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_provenance.
- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion evidence source_evidence_literature NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_provenance.
- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion SIO_000772 25339597 NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_provenance.
- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion wasDerivedFrom befree-2016 NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_provenance.
- NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_assertion wasGeneratedBy ECO_0000203 NP1231969.RAIbu0nDmCvW6_EaBUI4vzeZnjO14mJpy1pZsXGkXE16U130_provenance.