Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Jiang H, Alahmad A, Fu S, Fu X, Liu Z, Han X, Li L, Song T, Xu M, Liu S, Wang J, Albash B, Alaqeel A, Catalina V, Prokisch H, Taylor RW, McFarland R, Fang F
J Inherit Metab Dis. 2022 Mar;45(2):264-277. doi: 10.1002/jimd.12462. Epub 2022 Jan 8.
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