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1.
Nakamura, K.* et al.: Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction. J. Hum. Genet., DOI: 10.1038/s10038-025-01356-8 (2025)
2.
Crawford, A.A.* et al.: Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease. J. Hum. Genet. 66, 625–636 (2021)