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DESCRIBE <http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028>
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http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028
http://www.w3.org/2000/01/rdf-schema#comment
"Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42 EVC2 and SEC8 (also known as EXOC4) which encodes an exocyst protein with an established role in ciliogenesis"
xsd:string
http://purl.uniprot.org/uniprot/#_F5702CA387203B970714291E2D1367E91F3DE1380B3DC6A9E1EBEA256232EEE252FD719A07C6326BA1DE46D0360C235A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028
http://purl.uniprot.org/uniprot/B7Z4J9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028
http://purl.uniprot.org/uniprot/#_B7Z4J9-mappedCitation-23169490
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BB9147856C183CB5A7D162C31FE4171DC4709945C53765755DBE1352A94B66AFD3A58B2CC98915E2316EA34E5D646028