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Ella F. Whittle
发表
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.