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DESCRIBE <http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB>
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http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB
http://www.w3.org/2000/01/rdf-schema#comment
"This study suggested that the Microcephaly thin corpus callosum intellectual disability syndrome is caused by the more conserved mutation p.Thr186Arg with the second sequence change identified p.Pro416His."
xsd:string
http://purl.uniprot.org/uniprot/#_48705CBBDE71B5759BCAE498A0CF350B4949774EEAB77F9734238DA0CED8B0177633D6899F50A14692B145BA0D581EF3
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB
http://purl.uniprot.org/uniprot/B3KMD8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB
http://purl.uniprot.org/uniprot/#_B3KMD8-mappedCitation-24084144
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7B3ABC4E83FBBE9CFDC1670DE7E9E02A1998B19B626C2634821F4DE5E6BC378287A6CE34847934C5C07446040F45C5FB