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DESCRIBE <http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19>
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http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19
http://www.w3.org/2000/01/rdf-schema#comment
"A novel homozygous deletion of a 1-bp (c.161delC p.P54RfsX60) in the C16orf57gene was presumed to be causative of poikiloderma with neutropenia. The patient's asymptomatic consanguineous parents were heterozygotes for this mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_6940B6BF63FFF11E4772B83B267FFAED4014FBAD2C2AD43D93674CECFCA9DE0E87A955D68B4870E54A541A1251B32323
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19
http://purl.uniprot.org/uniprot/B4DDJ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19
http://purl.uniprot.org/uniprot/#_B4DDJ8-mappedCitation-29797650
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01AC68B4977613E4452B12075D39157A3202423910832F73CC52F1515C39CC2438E1B2B74A89242DACA1991AF83FBC19