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DESCRIBE <http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779>
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http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779
http://www.w3.org/2000/01/rdf-schema#comment
"p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation"
xsd:string
http://purl.uniprot.org/uniprot/#_8E71BE2C6A16495701260F5FE11ED58CAFB1F2ED0EC5D5E0A759BAF1E3B6E9A4CF2703388BEC9779E6595A4BB5998E96
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779
http://purl.uniprot.org/uniprot/B4DIX1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779
http://purl.uniprot.org/uniprot/#_B4DIX1-mappedCitation-24780617
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/376103F7312206044E2B07BD65D6F8922978176DAAF7D3A4889A3282C750A5E1B3FF5ADFFCFC2303C655E188083CA779