Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion wasGeneratedBy ECO_0000218 NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion wasDerivedFrom ctd_human-20130708 NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion SIO_000772 19239083 NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion evidence source_evidence_curated NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion description "[The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance.