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http://purl.uniprot.org/SHA-384/739BFAAA079740A940DFD1C1540A3AC73397EEF4740C327177EB48B32069A2223D2C206F1443D8B123E009A6C290E359http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/739BFAAA079740A940DFD1C1540A3AC73397EEF4740C327177EB48B32069A2223D2C206F1443D8B123E009A6C290E359http://www.w3.org/2000/01/rdf-schema#comment"Study presents the functional characterization of 31 D2HGDH missense variants and the identification of 10 novel variants in a large cohort of patients with D-2-hydroxyglutaric aciduria Type I. The functional tests proved effective in classifying missense variants associated with severely impaired D-2-HGDH activity."xsd:string
http://purl.uniprot.org/uniprot/#_AC8B42D45F5346D1EDC64B25733AACADA48AB2E96C60919BD4862FF0B1FA5F487BF79CDF877B19CCE06772D2FCB3076Ehttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/739BFAAA079740A940DFD1C1540A3AC73397EEF4740C327177EB48B32069A2223D2C206F1443D8B123E009A6C290E359
http://purl.uniprot.org/uniprot/B5MCV2http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/739BFAAA079740A940DFD1C1540A3AC73397EEF4740C327177EB48B32069A2223D2C206F1443D8B123E009A6C290E359
http://purl.uniprot.org/uniprot/#_B5MCV2-mappedCitation-30908763http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/739BFAAA079740A940DFD1C1540A3AC73397EEF4740C327177EB48B32069A2223D2C206F1443D8B123E009A6C290E359