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DESCRIBE <http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0>
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http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0
http://www.w3.org/2000/01/rdf-schema#comment
"Sequencing of the desmin gene showed a splice-site mutation (IVS3+1G-->A) which was absent in 300 healthy control subjects."
xsd:string
http://purl.uniprot.org/uniprot/#_4DB4237636DEEA3A21E574C797D71B7AB9A0E5341AC0D12ABD7C3DE6C8E7DA7F8EB5A38220DDE6FD0C8297D733CE8139
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0
http://purl.uniprot.org/uniprot/Q2PUK1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0
http://purl.uniprot.org/uniprot/#_Q2PUK1-mappedCitation-22484823
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/661E6E898C92A24AB221341519857FCB189FF44742AF7B903971D1C1BF94D25D33CF887E0E7DFE1E077727CA52E5B5C0