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DESCRIBE <http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797>
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http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797
http://www.w3.org/2000/01/rdf-schema#comment
"study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia"
xsd:string
http://purl.uniprot.org/uniprot/#_1A6B3A324AAF499A067663AA676C222F2693DE52818FD625E78CDB2AF739C1E646A81C6094180B617E3D8FE34A6EC297
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797
http://purl.uniprot.org/uniprot/O95394
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797
http://purl.uniprot.org/uniprot/#_O95394-mappedCitation-28704707
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/47628D0D953D51D8F04F14A6F0F753E0D42EF175E334F44398F2F06AADF3204D0E5D8D0ECF053CDF3362D492B8A7F797