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DESCRIBE <http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51>
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http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51
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/#_FFE0FEA7A5452E1698AB1DDE8A3AE9E7D169808D4D9DD8A21E098A0455A64A6885927A13BBE67E4FD2306D20D0E29EB6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51
http://purl.uniprot.org/uniprot/H0Y2M6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51
http://purl.uniprot.org/uniprot/#_H0Y2M6-mappedCitation-19507210
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BEB65D859F0994A6681EBBBF14D69415E36B41D9BBA253CFF4DB76642D54F8B03E5F7286E315BA205298B9CF15689E51