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DESCRIBE <http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622>
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http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622
http://www.w3.org/2000/01/rdf-schema#comment
"We report the discovery of a non-sense mutation in EXT2 in an 11-y-old boy diagnosed with multiple osteochondroma."
xsd:string
http://purl.uniprot.org/uniprot/#_805C6A6960064A42D9C8B7615A06F5CD9570685463D7AAC50D9D4CBD402B5199839E60DF209896BD60665970BEA85BFA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622
http://purl.uniprot.org/uniprot/D7RTA7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622
http://purl.uniprot.org/uniprot/#_D7RTA7-mappedCitation-25591329
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ECDCEB9B1D37B9AA9037F8EF43D272D835CB3E1FA6416A0816CC953C08274DFEED068BFA187ABAE429E2C51036938622