Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion> ?p ?o ?g. }
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- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion type Assertion NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_head.
- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion description "[To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_provenance.
- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion evidence source_evidence_literature NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_provenance.
- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion SIO_000772 19969293 NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_provenance.
- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion wasDerivedFrom befree-20140225 NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_provenance.
- NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_assertion wasGeneratedBy ECO_0000203 NP930695.RAekMHgoZZtyWFbAXWbTuZwo6imW9qAKxjBOwioh2C5Eg130_provenance.