Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion type Assertion NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_head.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_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." NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_provenance.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion evidence source_evidence_literature NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_provenance.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion SIO_000772 16647286 NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_provenance.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion wasDerivedFrom befree-2016 NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_provenance.
- NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_assertion wasGeneratedBy ECO_0000203 NP547420.RAWhl8GODZ6kDpxadI0D8CIaFBQF5spZaEjzs9_q1dc4E130_provenance.