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DESCRIBE <http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3>
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http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3
http://www.w3.org/2000/01/rdf-schema#comment
"Dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51 in muscle disorders."
xsd:string
http://purl.uniprot.org/uniprot/#_B3E06C3B82F007E3D997A8F5F0F9768E0E83889CDB2AB6A899E770BD7E2E8AD8CED544A74596AB2E45C98B08D10E14E8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3
http://purl.uniprot.org/uniprot/E5KVZ4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3
http://purl.uniprot.org/uniprot/#_E5KVZ4-mappedCitation-20535123
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CC5166F7E576C314642A4B4254D83F25825D7C5CAA8983C97C87E527566B7E249096875D89D7498966F950368F915BB3