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DESCRIBE <http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F>
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http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F
http://www.w3.org/2000/01/rdf-schema#comment
"we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene which abrogates CDSN expression"
xsd:string
http://purl.uniprot.org/uniprot/#_A9305030A2B5AB90E68722C0FF42061ACA87CD7D2FE4DF15A69092E55EADC13FF34D631A15AD4FA676F47FF22F0C0120
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F
http://purl.uniprot.org/uniprot/Q15517
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F
http://purl.uniprot.org/uniprot/#_Q15517-mappedCitation-24116970
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/169AFC759FB7462EBFF54F89D987C13EEDEC99E65DF2508F508CD0EF1B8C773B9623173C089B3706C2B75AD4266EF69F