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DESCRIBE <http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB>
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http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB
http://www.w3.org/2000/01/rdf-schema#comment
"Microdeletion within Xp22.3 containing STS with aCGH in an individual with suspected pre-Descemet corneal dystrophy and X-linked ichthyosis demonstrates the clinical utility of copy number variation analysis."
xsd:string
http://purl.uniprot.org/uniprot/#_5913D33A475AC7EA26A6B35F79DE34058FCACA172D2CDD756AA2B31F3751AB0D66A2E8F9A20CB75D528253D390653CA8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB
http://purl.uniprot.org/uniprot/P08842
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB
http://purl.uniprot.org/uniprot/#_P08842-mappedCitation-23807007
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/77A3F92F05F6E48F2BD4F88712EB0F59C3E5447D29F027684E64D912530193229A2F51B12B6F760032BBB916399A2AFB