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Kiss, S, Christodoulou, J, Thorburn, DR, Freeman, JL, Kornberg, AJ, Mandelstam, S, Compton, AG, Cummings, B, Pais, L, Yaplito‐Lee, J, et al. A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
American Journal of Medical Genetics Part A
2023
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