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DESCRIBE <http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D>
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http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D
http://www.w3.org/2000/01/rdf-schema#comment
"This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene"
xsd:string
http://purl.uniprot.org/uniprot/#_3618DFD9A895FB141A077F16E3FF826CE02A98B2434889593DC80C497525B66D8A46A556404904C196D4966D65503C54
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D
http://purl.uniprot.org/uniprot/Q8N465
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D
http://purl.uniprot.org/uniprot/#_Q8N465-mappedCitation-19283509
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AC6D7B6098EC161A8151A0C054ACA8F969FE3568E9F5AEE6D52EF65F5393A0B49E8CDD25DD69449A758DBA824EF47A7D