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DESCRIBE <http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865>
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http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865
http://www.w3.org/2000/01/rdf-schema#comment
"This study presents the first direct and conclusive evidence that an amount of Dysferlin =20% is pathogenic and always caused by primary dysferlin gene mutations."
xsd:string
http://purl.uniprot.org/uniprot/#_6F7174F7F23686EC373967F3055C027E13DDD4331A683A9CC7312097833ED443FEE52839673C4569604BB988F06CC640
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865
http://purl.uniprot.org/uniprot/E5KVZ4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865
http://purl.uniprot.org/uniprot/#_E5KVZ4-mappedCitation-21522182
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C9F5A7648006F212443BC6E1024D974231E7C0CF56294BD33FC01C76CFA211F471426F064520EBB3ED9F1CDB774F9865