De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
Lou X, Zhou Y, Liu Z, Xie Y, Zhang L, Zhao S, Gong S, Zhuo X, Wang J, Dai L, Ren X, Tong X, Jiang L, Fang H, Fang F, Lyu J.
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Gene. 2023 Apr 15;860:147229. doi: 10.1016/j.gene.2023.147229. Epub 2023 Jan 27.
Gene. 2023.
PMID: 36717040