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DESCRIBE <http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039>
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http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039
http://www.w3.org/2000/01/rdf-schema#comment
"This study demonistrated that patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of progressive myoclonus epilepsy extending the spectrum reported in the typical action myoclonus renal failure syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_D6D9CBAC1A0346376441C767FEFE8CB2ECF9BB0BE46155B7357AC34881EF6AA6A5509798BDCD9AF9F4BE084A9FBB7E44
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039
http://purl.uniprot.org/uniprot/Q14108
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039
http://purl.uniprot.org/uniprot/#_Q14108-mappedCitation-22050460
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FFF7322C523F9656D464ED8B17616CEC563C4036FC6F7E3D2EF95C05673FE1C243C4F2E0DFE713C4F0977394B1665039