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DESCRIBE <http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261>
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http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261
http://www.w3.org/2000/01/rdf-schema#comment
"Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy."
xsd:string
http://purl.uniprot.org/uniprot/#_3DF9FEAED7ACF0F919017F284F271277704845CF0A4A6DDD00EA562EED0AB9DAF2909B09F474A8B856AA321B6E0ACD6F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261
http://purl.uniprot.org/uniprot/Q06265
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261
http://purl.uniprot.org/uniprot/#_Q06265-mappedCitation-33040083
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/483225B04CD5CE40CF7A54A689C243468AC8257B22B3472C21880A5C06D64476A7BC82D8747171CA84845FBB75788261