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DESCRIBE <http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5>
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http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5
http://www.w3.org/2000/01/rdf-schema#comment
"Sequencing methylation analysis and large deletion research were performed in GNAS. No genetic mutations were found. Methylation analysis revealed a broad epigenetic defect without deletion in GNAS consistent with sporadic PHP1B."
xsd:string
http://purl.uniprot.org/uniprot/#_5DF86E113757787343D74398D2BC3A024CA360241E24513B05BFDC4CAF9080AE95D729C3C8E45524DCCA837F7F1EDD2C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5
http://purl.uniprot.org/uniprot/O60726
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5
http://purl.uniprot.org/uniprot/#_O60726-mappedCitation-25802348
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DDC657870888F9229E2B2A0990176B22DC4D9ACC2551EB28C4FF4746A6FB733528BF41C7575D0A2A1BF54C3CA61D58F5