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DESCRIBE <http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE>
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http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE
http://www.w3.org/2000/01/rdf-schema#comment
"We describe a large extended family with three affected males four carrier females one presumed carrier female and one obligate carrier female with a c.190G>T p.E64X mutation known to cause a premature stop codon in SLC9A6"
xsd:string
http://purl.uniprot.org/uniprot/#_1BC61C572B1AB6608E2F67B54076F1354A955CF613746BB1FF37C4E5F95DA18F2C01D70529DBB240CD4B110C1709A1A3
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE
http://purl.uniprot.org/uniprot/A0A1B0GV11
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE
http://purl.uniprot.org/uniprot/#_A0A1B0GV11-mappedCitation-27142213
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/83804832792D46BB583628970C349BB2664B816D736AF7A16556652CF5D1A2EB90F5D6C7535CB7B37E18026763CEC2EE