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DESCRIBE <http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638>
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http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638
http://www.w3.org/2000/01/rdf-schema#comment
"33 novel splice site mutations in ATP7a gene detected in patients with Menkes disease are described."
xsd:string
http://purl.uniprot.org/uniprot/#_A5CA8381CBEFD0AD2182C6495978DE33090182CFE40F9CB013735E38312A96C420424166AAF0247DD13106ECC0819254
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638
http://purl.uniprot.org/uniprot/B4DRW0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638
http://purl.uniprot.org/uniprot/#_B4DRW0-mappedCitation-21494555
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C7E0336332E0EF6FAD99D7C5C20B53681512E558127976E16373844608DD34AE3C50E92586B916512F5EA2F90041E638