Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion> ?p ?o ?g. }
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- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion type Assertion NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_head.
- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion description "[Deletions of the distal 3q22.3 region encompassing the gene forkhead transcription factor FOXL2 (FOXL2) usually result in intellectual disability (ID) and the highly recognizable blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_provenance.
- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion evidence source_evidence_literature NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_provenance.
- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion SIO_000772 21204216 NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_provenance.
- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion wasDerivedFrom befree-20140225 NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_provenance.
- NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_assertion wasGeneratedBy ECO_0000203 NP182104.RAS7l0Q54GqPiLnYTWl7l1BSglQ_1y3lOIF1XGl-wiIJ8130_provenance.