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DESCRIBE <http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE>
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http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE
http://www.w3.org/2000/01/rdf-schema#comment
"We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome)."
xsd:string
http://purl.uniprot.org/uniprot/#_972F8F0FECACCAD679D3A79CA6E38B8698BDAB75ACA6D1B92DD1C0A23AB4E39D30328E774BE31ECFC04007B2253A6753
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE
http://purl.uniprot.org/uniprot/O15120
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE
http://purl.uniprot.org/uniprot/#_O15120-mappedCitation-19226263
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BAF6553EA4CE8AEEECF54887FE0FA896B9BB4F9CE15B7010C9A184F37AF524CD24DF73470E084C68C08111874B93C8FE