Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion type Assertion NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_head.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_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." NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_provenance.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion evidence source_evidence_literature NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_provenance.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion SIO_000772 21204216 NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_provenance.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion wasDerivedFrom befree-2016 NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_provenance.
- NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_assertion wasGeneratedBy ECO_0000203 NP862858.RALpYSfdPn0GN4znt6yuE37b8XeiAtkPBbImXIiKkT7Qc130_provenance.