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DESCRIBE <http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8>
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http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8
http://www.w3.org/2000/01/rdf-schema#comment
"A novel homozygous DDC variant in syndromic intellectual disability patients c.1123C>T resulting in p.Arg375Cys missense substitution."
xsd:string
http://purl.uniprot.org/uniprot/#_494F450FC28A2A3B2F786A934B2515ED823A11AAD2F923C50AAD8CBC7CD6798785ADA7327A9A6523CA347171BAC8F9E6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8
http://purl.uniprot.org/uniprot/Q53Y41
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8
http://purl.uniprot.org/uniprot/#_Q53Y41-mappedCitation-25597765
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EF1F1F69B3E8D9A5E6EFFEBD66B72FE18E1D0E2D816669FE2883BC794CFB0573809E5512E1B8329A902D1876866C97B8