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DESCRIBE <http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A>
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http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A
http://www.w3.org/2000/01/rdf-schema#comment
"Homozygous missense mutation in SPAG17 gene is associated with multiple congenital anomalies including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy."
xsd:string
http://purl.uniprot.org/uniprot/#_68BECB69A510C364B1DBE301265434C1415894F8E654E799D25A778E7A1E945C25F6811E170E10965B9524F8AA7EF1EC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A
http://purl.uniprot.org/uniprot/Q6Q759
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A
http://purl.uniprot.org/uniprot/#_Q6Q759-mappedCitation-29174089
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3353BE903A5B011F11C2E5EEFEFC5A2F355B1C9A8FFA47CB934172E02755E599883941D40519237D110CACC266D608A