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DESCRIBE <http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C>
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http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C
http://www.w3.org/2000/01/rdf-schema#comment
"DES mutations lead to heterogeneous myopathies ranging from Skeletal Muscle Disease to isolated Cardiomyopathy. So far less than 10 pathogenic variants linked to Arrhythmogenic cardiomyopathies have been identified in DES gene."
xsd:string
http://purl.uniprot.org/uniprot/#_F25D314A4BEB4B8830F2D87B9149906743232F41FC1E163093AEF43FEB07B5712E31E6CC1989754915D3A85BB5D1FC42
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C
http://purl.uniprot.org/uniprot/A5Z217
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C
http://purl.uniprot.org/uniprot/#_A5Z217-mappedCitation-30792239
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/78C5B1897B660F78272B0C707D075356BDD1E5CB89FDB2DB6748C4877C7D0B1E613365E80AEE523958A672841135D51C