Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion> ?p ?o ?g. }
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- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion type Assertion NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_head.
- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion description "[Blepharophimosis syndrome is a recognizable ocular phenotype (blepharophimosis, telecanthus, ptosis, and epicanthus inversus) caused by heterozygous (dominant) intragenic mutation in FOXL2 (chromosome 3q23), which can also cause premature ovarian failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_provenance.
- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion evidence source_evidence_literature NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_provenance.
- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion SIO_000772 25032695 NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_provenance.
- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion wasDerivedFrom befree-20150227 NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_provenance.
- NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_assertion wasGeneratedBy ECO_0000203 NP270391.RAQAXs8xFoE-uK46qTHKxBZxmaA9dzdVwGjifZADQClrA130_provenance.