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DESCRIBE <http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6>
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http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6
http://www.w3.org/2000/01/rdf-schema#comment
"study puts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic inherited retinal dystrophies; data support a role for impaired ubiquitination in the pathogenetic mechanism of RCBTB1 mutations"
xsd:string
http://purl.uniprot.org/uniprot/#_B509DD245B8B6DB3D77327BB827678DBD6A86225C189EC233C2F2F8109763631C7849F56061BE07B8ADDBDA6913527CE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6
http://purl.uniprot.org/uniprot/B3KR20
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6
http://purl.uniprot.org/uniprot/#_B3KR20-mappedCitation-27486781
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CB1C0571C5A08ED646F1D67A114B318C2F52726187B9031EDC409F34B694AB1A3A29854776F6ED8F1A57DC54A9FC97F6