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DESCRIBE <http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F>
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http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F
http://www.w3.org/2000/01/rdf-schema#comment
"This is the first case of mitochondrial dysfunction associated with an EXOSC3 mutation which expands the phenotypic spectrum of pontocerebellar hypoplasia type 1b."
xsd:string
http://purl.uniprot.org/uniprot/#_B124A141D31179D16D7366B44DE4838CE47CF055A0F0CC2A8420AA9C28E4424E743B9D2CEB374DC419A969AF09253E37
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F
http://purl.uniprot.org/uniprot/Q9NYS3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F
http://purl.uniprot.org/uniprot/#_Q9NYS3-mappedCitation-28687512
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5317991509CF20F0A25BEAC220BF7D2AF3C69735CCD22061C49191A24E236F9EB45197C4B900029E9DA1C449760B3E4F