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DESCRIBE <http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15>
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http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15
http://www.w3.org/2000/01/rdf-schema#comment
"This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay."
xsd:string
http://purl.uniprot.org/uniprot/#_4CE8FA5713E8A0C3E6776EDCD1C5421BB577C8B940F248F295B997CD3EBD7418A774CB4D1461B750EFC8A74B9E4D8ABC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15
http://purl.uniprot.org/uniprot/A0A384P5H7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15
http://purl.uniprot.org/uniprot/#_A0A384P5H7-mappedCitation-17537636
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2842766B9B3896AD11B9289FC38D8336FD3A9B77BE8F26B308397DF5623DC48E8877C611B1C5AED0CB72544C78841B15