Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion> ?p ?o ?g. }
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- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion type Assertion NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_head.
- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion description "[Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_provenance.
- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion evidence source_evidence_literature NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_provenance.
- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion SIO_000772 21831958 NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_provenance.
- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion wasDerivedFrom befree-2016 NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_provenance.
- NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_assertion wasGeneratedBy ECO_0000203 NP916121.RAC9FJcjVW2cuXiq_x80hLX7WPHQMoGegQYy2yC--LYxA130_provenance.