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Am J Hum Genet 42:422434 Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA III, UDN Co (2018) Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

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