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DESCRIBE <http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE>
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http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE
http://www.w3.org/2000/01/rdf-schema#comment
"our work describing two new PIK3CD gain-of-function mutations E81K and G124D demonstrated that mutations in the ABD and its linker region lead to APDS1."
xsd:string
http://purl.uniprot.org/uniprot/#_E72F9504B976A1332778B53013BD2E1C187FAFCF6F9F2D74E00A61CB3192D342C80455D1A2CC55209EE669981F1D8D8A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE
http://purl.uniprot.org/uniprot/O00329
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE
http://purl.uniprot.org/uniprot/#_O00329-mappedCitation-28428270
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/144E5F3D83580A6A51919EBCC853605CF5AFA3B56860EB4D6C4CFA6124173060CC944D44229205B198F102C5E78F43AE