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DESCRIBE <http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E>
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http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E
http://www.w3.org/2000/01/rdf-schema#comment
"Mutations in TCIRG1 OSTM1 ClCN7 and TNFRSF11A genes were detected in nine three one and one patientswith infantile malignant osteopetrosis respectively."
xsd:string
http://purl.uniprot.org/uniprot/#_CD1A9CD55414380E515422D80E1173F2BDBB496527098F6E8996662F1D93C034CB3F270C3578D677F12194A4058710BA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E
http://purl.uniprot.org/uniprot/Q86WC4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E
http://purl.uniprot.org/uniprot/#_Q86WC4-mappedCitation-19507210
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4052DE598D297C263BD6DC59F912F0E1E7D5B7A06A8F4A534BC30060B7314296CB58B4CA885D16BC290D8D5E8AFFFA4E