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DESCRIBE <http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2>
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http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2
http://www.w3.org/2000/01/rdf-schema#comment
"Results demonstrated that a novel missense variant LOXHD1: c.5948C > T was associated with non-progressive Deafness autosomal recessive 77 in a Chinese family under consanguineous marriage."
xsd:string
http://purl.uniprot.org/uniprot/#_2A4D9EE02FF31741A52450CFDC236FF5D93DE7B1D8305A0658FC644DCA5B87F3F6C8CCA623A8EF540D12A2E8BA9F264E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2
http://purl.uniprot.org/uniprot/Q8IVV2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2
http://purl.uniprot.org/uniprot/#_Q8IVV2-mappedCitation-30760222
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5A57E67B8C52F10074F136FC305ECDAC58208D090B9BFA41045882A6F211EE03ACFB209DE6FA306EE550F33E2D0BE9B2