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DESCRIBE <http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422>
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http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422
http://www.w3.org/2000/01/rdf-schema#comment
"Not only truncating but also missense mutations of the KCC3 gene are associated with Andermann syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_073A5AAEE5D6B647415BC0EC142829EBBAC869FAC35EB4DCC0F9E8E5E8DCB502697DD0F65AB8275B6902791F6E021310
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422
http://purl.uniprot.org/uniprot/Q6NSI7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422
http://purl.uniprot.org/uniprot/#_Q6NSI7-mappedCitation-16606917
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/140716534B184397CB8A9DBBAA21CA6E80E392C87FC25B2B1EFBEDC037AD918D792BFE5E2C97446F276E10B7E2E18422