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DESCRIBE <http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611>
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http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611
http://www.w3.org/2000/01/rdf-schema#comment
"A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features."
xsd:string
http://purl.uniprot.org/uniprot/#_579801757AF4E2DF10BD5C28944845620DADD55FDF7177D867B5057007AC1FF031C262AEF10C4F9826C3A150816A9393
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611
http://purl.uniprot.org/uniprot/Q9NXS9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611
http://purl.uniprot.org/uniprot/#_Q9NXS9-mappedCitation-32886330
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/607CA94F8A9D7DDA868A7D7CBE43B6C4BE5BC78DE7D58D1AC0D8A226ABF348AD69BA63E6DD85DFA11343781827AF4611