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DESCRIBE <http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63>
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http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63
http://www.w3.org/2000/01/rdf-schema#comment
"Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_A5A5C4DEFB5365579719FA4FA405FC1B11C83958477899F9A51F2A5B3B3E3DBEB471CED4180E7A093AD1F67DF0C94970
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63
http://purl.uniprot.org/uniprot/B5A224
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63
http://purl.uniprot.org/uniprot/#_B5A224-mappedCitation-24247805
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D22B2A29A0DA8BC8D522211134D909A203A8BA512046CEE7A17E017491D1ECCBEE6DF10054B1748FD6027019400A7C63