Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion> ?p ?o ?g. }
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- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion type Assertion NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_head.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_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." NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion evidence source_evidence_literature NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion SIO_000772 16647286 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion wasDerivedFrom befree-2016 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion wasGeneratedBy ECO_0000203 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.