Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_assertion wasGeneratedBy ECO_0000203 NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_assertion wasDerivedFrom befree-20150227 NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_assertion SIO_000772 21615690 NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_assertion evidence source_evidence_literature NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.
- NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_assertion description "[Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63α SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799747.RA1MElz9HGCCsjVlOt7mPsXYQ8drzTawF3oAu95SBDqXY130_provenance.