Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1001247.RAq31miXDKan7V6pugDoLmDhWDb9HZaQBbRqC1q68ZaLk#assertion> ?p ?o ?g. }
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- assertion description "[Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15450400 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.