Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion> ?p ?o ?g. }
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- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion type Assertion NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_head.
- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_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." NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_provenance.
- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion evidence source_evidence_literature NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_provenance.
- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion SIO_000772 16647286 NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_provenance.
- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion wasDerivedFrom befree-20140225 NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_provenance.
- NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_assertion wasGeneratedBy ECO_0000203 NP243497.RAdkvmlvyjWpvqTPyB3QAEHT8iBxZJqED97fl6BnCk0p8130_provenance.