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DESCRIBE <http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B>
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http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B
http://www.w3.org/2000/01/rdf-schema#comment
"A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly Spastic Quadriplegia Epilepsy and Cataracts."
xsd:string
http://purl.uniprot.org/uniprot/#_D59C4D47F20D120D0B5B23FEBA4D6DC52605F646AD4A8F3EC08551DF1C062787EA138733FA8F2DC789435E8207B29050
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B
http://purl.uniprot.org/uniprot/Q8WUM5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B
http://purl.uniprot.org/uniprot/#_Q8WUM5-mappedCitation-35052432
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/03A8FDB35F6FE2F1979E2BCA1B96B664FDA3B5C34D58BC4E1C608E5772D41A4CCA2B72949A36E1024AA9B90D0374AA8B