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DESCRIBE <http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658>
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http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658
http://www.w3.org/2000/01/rdf-schema#comment
"A c.-171C>G mutation in the iron-regulatory element of FTL was found in 2 members of a Spanish family with hyperferritinemia-cataract syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_20996161B2F44847717E2B6EBB333B6D37D16BE8BA6232E6CCD19C802CC4BB0F956F3E1BEFC5020315CDBEF93716E222
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658
http://purl.uniprot.org/uniprot/O00563
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658
http://purl.uniprot.org/uniprot/#_O00563-mappedCitation-24022025
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C7189686CB90C3064CEAC9224C2543A03EE62F5FD94EC2661D48782020EDCAF3F18AE5D42777E0DACCD255BEA71FC658