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DESCRIBE <http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333>
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http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333
http://www.w3.org/2000/01/rdf-schema#comment
"The SYNGAP1 mutations cause a generalized developmental and epileptic encephalopathy with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures."
xsd:string
http://purl.uniprot.org/uniprot/#_218F0C280E2881AF020C6D764278858F2D05D58519CE51B791F84A1405F6563E7B251BDA4FDAB818B63A7CFB98B23A2C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333
http://purl.uniprot.org/uniprot/A0A1U9X8L0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333
http://purl.uniprot.org/uniprot/#_A0A1U9X8L0-mappedCitation-30541864
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ED4DA602EFE5AA3C477DC61CC52381E89DA17A5FC640F7BAF145B939177C62F0DE84AB5F2331F6F8302822146F0C1333