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DESCRIBE <http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703>
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http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703
http://www.w3.org/2000/01/rdf-schema#comment
"TBX1 missense mutations cause gain of function resulting in Shprintzen syndrome"
xsd:string
http://purl.uniprot.org/uniprot/#_0813EACD555D30A426C696CDCC2B9585BCE46B4E73263052A887185C7B18A6E72A608FC8B5BCEA8B3C83766F2E0CD77F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703
http://purl.uniprot.org/uniprot/Q152R5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703
http://purl.uniprot.org/uniprot/#_Q152R5-mappedCitation-17273972
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8860752E814788DB6F72EDF9953747BD5B2017380D7486C5E0A16FABA1469D5AF26557D14996D026824EE82D28C06703