Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP122843.RABerB5z-FWIe0awMs_PES0MA1uSTxJT7bHnSEAFuyk2A#assertion> ?p ?o ?g. }
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- assertion description "[Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian failure in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16647286 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.