Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_assertion description "[Hay-Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate, from which the disorder's other name, AEC syndrome, is derived.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_assertion evidence source_evidence_literature NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_assertion SIO_000772 19681128 NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_assertion wasDerivedFrom befree-2016 NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_assertion wasGeneratedBy ECO_0000203 NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.
- befree-2016 importedOn "2016-02-19" NP757661.RAghtvwgHdKJUA0vK7hUK-zM46SwzKCngMxec6re4qlz0130_provenance.