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DESCRIBE <http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91>
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http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91
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/#_AEC17570C9D993ECD48AE2DAC8DA734E74D7C1D7C7BBD1DC2E118B5DF9F637D7E5490DD199C6AFCC373C04B725708659
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91
http://purl.uniprot.org/uniprot/Q2PUK1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91
http://purl.uniprot.org/uniprot/#_Q2PUK1-mappedCitation-30792239
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC9BFB3567CE7D5E0F8C5F4D528D8E9B48E21FF157F37BA40E738930CDCAC8019F8706A6F0E32BFDF5A3407C924C8F91