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Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy

Severe EncephalopathyGenetic DisorderGeneticsHomozygous MutationPathologyMolecular GeneticsIsocitrate Dehydrogenase SubunitDisease Gene IdentificationNeuropathologyMedicine