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DESCRIBE <http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2>
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http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2
http://www.w3.org/2000/01/rdf-schema#comment
"A 29-month-old boy presented with facial rash and history of early death of a sibling with infections was found to have a selective deficiency of C1q with a homozygous point mutation in the C1qA gene cahin."
xsd:string
http://purl.uniprot.org/uniprot/#_A82F698EC52CC406E114247798771FEFF279DD6B8EA362048A5BE2547D72A6A694100FA87C546926A8CC5654E3C33FAB
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2
http://purl.uniprot.org/uniprot/P02745
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2
http://purl.uniprot.org/uniprot/#_P02745-mappedCitation-20560256
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B621D14613CB726B853F8FAC1F218E70369FB3B7D2F2A31C808AFFA1522B469C284975D3BB5D7394E66E8745381140F2