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DESCRIBE <http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339>
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http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339
http://www.w3.org/2000/01/rdf-schema#comment
"Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure Severe Combined Immunodeficiency Skeletal Dysplasia and Congenital Malformations."
xsd:string
http://purl.uniprot.org/uniprot/#_B317D4085E02613458AEF323D680DD87A1F13289138280655F891E72E3937A9EA1793FD4498B283F80945AC5905F422E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339
http://purl.uniprot.org/uniprot/O95394
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339
http://purl.uniprot.org/uniprot/#_O95394-mappedCitation-28543917
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D3710D923EA7D0F3D0FBDE260B511AE48F324F7BC6A85954B08F567215A836805BD06D3736472BEEF926391C46FBD339