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DESCRIBE <http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F>
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http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F
http://www.w3.org/2000/01/rdf-schema#comment
"Homozygous for a c.218dupT (p.His75Serfs*2) mutation in exon 3 of CSTB causes neurodegeneration progressive cerebral volume loss and diffuse hypomyelination."
xsd:string
http://purl.uniprot.org/uniprot/#_89C5AC3FC9C621DA3619952FBE780D2E272B54E2773B05C557E1CC58F4A709DA4CDF2BF42071871B0EABFDAD1C248928
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F
http://purl.uniprot.org/uniprot/Q76LA1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F
http://purl.uniprot.org/uniprot/#_Q76LA1-mappedCitation-28378817
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7697657E4115366516B242BAC5BE7EA72805F18B73FE29DCEC5F02A7D17BC14FA0D8292C1B8DCE33D0A7C2A19AEA0F1F