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DESCRIBE <http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3>
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http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3
http://www.w3.org/2000/01/rdf-schema#comment
"A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant."
xsd:string
http://purl.uniprot.org/uniprot/#_60C4A9BB4EB0625A78D69D332E55AC368BB548CB8C4B7FEC91DEE72E0D363D1DC306346851084D0FC2EF0DF742C406A4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3
http://purl.uniprot.org/uniprot/Q8IU84
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3
http://purl.uniprot.org/uniprot/#_Q8IU84-mappedCitation-30536840
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3B5471F9AFFE17EDA04DE28D45342B446FBE845942F1071A3EF8B79640B3594DFD836816855798FDB943576558D4EE3