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DESCRIBE <http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062>
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http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062
http://www.w3.org/2000/01/rdf-schema#comment
"CLCN7 mutation is associated with osteopetrosis."
xsd:string
http://purl.uniprot.org/uniprot/#_AFB493D9A6A54F8AF954F35B3503D948477C994EA7E0A7A14D9D5D688190FDF9A5A3FEF830FB399FE36DE55EAEECBEF8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062
http://purl.uniprot.org/uniprot/H0Y2M6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062
http://purl.uniprot.org/uniprot/#_H0Y2M6-mappedCitation-30431110
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AD5AEDAB75CEC384C6704C539B7E62D7253E7246BA9C2C264FBBFD4E6815C768F70AF85C6A992499970D492C02E16062