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http://purl.uniprot.org/SHA-384/E82D8E9AE9B9EABCDAE012FFE85C9D00720F924074AEA97E3F134D46D2C847B93D689F1C8B2C7701B777BFC606B33FF6http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E82D8E9AE9B9EABCDAE012FFE85C9D00720F924074AEA97E3F134D46D2C847B93D689F1C8B2C7701B777BFC606B33FF6http://www.w3.org/2000/01/rdf-schema#comment"we utilized the NGS technology to identify two novel KCND3 mutations from two distinct pedigrees with molecularly unassigned SCA. Our clinical observations broaden the genotypic and phenotypic spectrum of SCA19/22 to include cerebellar ataxia developmental delay cognitive impairment myoclonus and dystonia thereby emphasizing the significance of KCND3 mutations in a wide range of different neurological disorders."xsd:string
http://purl.uniprot.org/uniprot/#_8257A1CDB65D38B890C31F3600F7FF7E6D3137F676933338AA5B7CEB434A75B36502B25B8B2BCC9295426FD221BBCB8Chttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/E82D8E9AE9B9EABCDAE012FFE85C9D00720F924074AEA97E3F134D46D2C847B93D689F1C8B2C7701B777BFC606B33FF6
http://purl.uniprot.org/uniprot/Q9UK17http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/E82D8E9AE9B9EABCDAE012FFE85C9D00720F924074AEA97E3F134D46D2C847B93D689F1C8B2C7701B777BFC606B33FF6
http://purl.uniprot.org/uniprot/#_Q9UK17-mappedCitation-31293010http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/E82D8E9AE9B9EABCDAE012FFE85C9D00720F924074AEA97E3F134D46D2C847B93D689F1C8B2C7701B777BFC606B33FF6