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DESCRIBE <http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D>
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http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D
http://www.w3.org/2000/01/rdf-schema#comment
"two synonymous mutations expand the spectrum of rare PDHA1 splicing mutations all of which are located in non canonical splice sites."
xsd:string
http://purl.uniprot.org/uniprot/#_8395CDCFD3D7D732A4B632A615B79C172D5E6E0A8A1CDA7B31DB0631ED8441D48EFEF2847AE285D27B98FF2012EFAF3A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D
http://purl.uniprot.org/uniprot/P78557
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D
http://purl.uniprot.org/uniprot/#_P78557-mappedCitation-18023225
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/859B04CBF579B9D7E2122F342BFA1A5E96CA5405E013B1B8D6A57E3AAB7E4265EADC4899AF58DF24FD885360F9C4DE7D