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DESCRIBE <http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C>
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http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C
http://www.w3.org/2000/01/rdf-schema#comment
"A novel homozygous LMNA missense variant identified in a patient presenting poikiloderma joint stiffness and distal acroosteolysis without features of muscle weakness."
xsd:string
http://purl.uniprot.org/uniprot/#_8B85ABDC703BAC035296B08BE1031CFED9092F85CB333477AFAC354EB88CE3D3D313AAF6F37EA63CED317057DB12F7E3
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C
http://purl.uniprot.org/uniprot/A0A384MQX1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C
http://purl.uniprot.org/uniprot/#_A0A384MQX1-mappedCitation-26733286
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/196AABE70E87BDB0D0DBCA8BED2FB5FE19840F4946F1953183FAE7D73BE7205821C16CFB54020E7053230117BF143F6C