Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_assertion description "[Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_assertion evidence source_evidence_literature NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_assertion SIO_000772 22315192 NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_assertion wasDerivedFrom befree-20140225 NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_assertion wasGeneratedBy ECO_0000203 NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP503936.RAL7l12AjAxfvGZrBCGIYxIqc9aawXEYDJh-fp0jLK7pY130_provenance.