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DESCRIBE <http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88>
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http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88
http://www.w3.org/2000/01/rdf-schema#comment
"Case Report: c.567dupT p.(Ile190Tyrfs*13) MMACHC heterozygous mutation underlying methylmalonic academia in infant."
xsd:string
http://purl.uniprot.org/uniprot/#_1A817EC07E3177D79D1B8B52D98E1BD93BFCAF3102953434AA763537663EBDA1D1126661596B25D8828A4122EB46245A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88
http://purl.uniprot.org/uniprot/Q9Y4U1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88
http://purl.uniprot.org/uniprot/#_Q9Y4U1-mappedCitation-27383490
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/13A3AB5FC76993D4EE0594B121E6849123F4CA7E8E377DE268D15925657960EC6CACEC3B92A3D6FCA643AA4DE6F4CC88