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DESCRIBE <http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504>
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http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504
http://www.w3.org/2000/01/rdf-schema#comment
"Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)."
xsd:string
http://purl.uniprot.org/uniprot/#_F8CFE6B59F76A9588DC0267020BA474E4364224478B9D0F26AC5DD6C9214D6B1E6A8A50E03DB3874F5EA867D64F15AE5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504
http://purl.uniprot.org/uniprot/B2R6D4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504
http://purl.uniprot.org/uniprot/#_B2R6D4-mappedCitation-33811480
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/258E48C02F29004724EE3AF80228E847C3FDC1F8914A901FDC6995B5434012F58C4A63A1D4BBBB0C035469C79DDDE504