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DESCRIBE <http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4>
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http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4
http://www.w3.org/2000/01/rdf-schema#comment
"Study reveals a non-classical hereditary spastic paraplegia (HSP) intellectual disability nystagmus and obesity phenotype for a KIDINS220 nonsense mutation which broadens both the clinical and genetic spectrum for autosomal dominant HSP."
xsd:string
http://purl.uniprot.org/uniprot/#_6238807EBDC60501670B69E9464B26D552301DB7F54C82A3036F46FDBF04F8922BFA14CB31448ADB894DEAB8DDA87022
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4
http://purl.uniprot.org/uniprot/Q9ULH0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4
http://purl.uniprot.org/uniprot/#_Q9ULH0-mappedCitation-31630374
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/14EAE918AE6B7D1D78CA7E0843C2757598ABD105DEEFDE50EC6F27A1F3735A59FA5165DF3D0B4DFBCB51B8654293B4C4