Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease
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This study examines two rare compound heterozygous missense variants in the SDHA gene, c.1535G > A (p.R512Q) and c.1753C > T (p.R585W), identified in a pediatric patient presenting with neurological manifestations, including epilepsy, developmental delay, and ... ...
