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DESCRIBE <http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6>
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http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6
http://www.w3.org/2000/01/rdf-schema#comment
"Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype."
xsd:string
http://purl.uniprot.org/uniprot/#_E4C9A1C6BF1C0D7B22AFBB887BEF713AC0803D38D5298C2A8CAC4CCFECD6C4A25B0B38B3542888CA7B3414B7311B6117
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6
http://purl.uniprot.org/uniprot/Q6IQ50
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6
http://purl.uniprot.org/uniprot/#_Q6IQ50-mappedCitation-36041634
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EE7E0F6EAB678ABC9F526E4219C2B2A284BB680A01606E32CE83347596D03C29936FCE536AF96E568B49AF92C33B6CF6