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DESCRIBE <http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40>
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http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40
http://www.w3.org/2000/01/rdf-schema#comment
"233 T > C mutation in the IER3IP1 causes microcephaly with simplified gyral pattern epilepsy and permanent neonatal diabetes syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_44AF47F1F2496333AB3A72AAC9FA4DF7AB77AA5D4F15339BEE1291EADB3388464D34FCB0F2F635C1828B78CC5E611BE2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40
http://purl.uniprot.org/uniprot/Q9Y5U9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40
http://purl.uniprot.org/uniprot/#_Q9Y5U9-mappedCitation-28711742
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85BCFA1A70977E71619B3130CD0F1AFFE6CBB292DB31DCBC950A718D674B0EBB1C9BA7BF836077A3FEF9704ADC803C40