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DESCRIBE <http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53>
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http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53
http://www.w3.org/2000/01/rdf-schema#comment
"The results showed that mutations in genes encoding SKIV2L cause trichohepatoenteric syndrome establishing a link between defects of the human exosome complex and a Mendelian disease."
xsd:string
http://purl.uniprot.org/uniprot/#_873538A57165891A8AF0CDA51150DFA3A00EDE43BE3FF0491F09B4BDA2809FE31B492569346A727DB640D4AFA23F9AB3
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53
http://purl.uniprot.org/uniprot/Q9BQJ5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53
http://purl.uniprot.org/uniprot/#_Q9BQJ5-mappedCitation-22444670
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4A78354370F9FEFF86EB3806CD52867EF0E866B46018092C8B4B95C0E6923F03DC80D3ABAF91F5DA01A5876E8B182E53