Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion> ?p ?o ?g. }
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- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion type Assertion NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_head.
- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_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." NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_provenance.
- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion evidence source_evidence_literature NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_provenance.
- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion SIO_000772 19681128 NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_provenance.
- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion wasDerivedFrom befree-2016 NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_provenance.
- NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_assertion wasGeneratedBy ECO_0000203 NP757668.RAehp1EqLaBBhd8V0WfxWvk47pWIyHe-fIHXmi3qfEc_o130_provenance.