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DESCRIBE <http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF>
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http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF
http://www.w3.org/2000/01/rdf-schema#comment
"We used this new approach to analyse exome data from 24 patients with primary immunodeficiencies. Our analysis identified two novel causative deletions in the genes GATA2 and DOCK8"
xsd:string
http://purl.uniprot.org/uniprot/#_ED34BB29E5FC37E0AE02721087EE2289DE2C9B06C43DCC9597EE330D38882D968AF8F5D513A43C802D2661B92CEA884A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF
http://purl.uniprot.org/uniprot/Q8NF50
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF
http://purl.uniprot.org/uniprot/#_Q8NF50-mappedCitation-22942019
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6A813DE8AE3A8E2E5469DAFB8325EA4530D19DD00D148F6A241313D25009115382DFB5433D4D8B95E69209AEE4EDBFBF