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DESCRIBE <http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E>
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http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E
http://www.w3.org/2000/01/rdf-schema#comment
"Two patients sisters from a consanguineous family were diagnosed with HIGM2 syndrome and found to be homozygous for a transversion mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_3E8FA052C73182F57936C89D97F10E7A6A27B1D19FF35203E68B109F6865C1F91CBFF98C15B2383B309CBD17A05C8234
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E
http://purl.uniprot.org/uniprot/Q7Z599
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E
http://purl.uniprot.org/uniprot/#_Q7Z599-mappedCitation-23803409
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4362CEEC113F2216DB84FFA23BEA127401C50AB5914779AD54FC3C0E5C917B60A1E26014B3F75DE1065CF203628A000E