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Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY, Chen LW, Tsai MC, Chou YY, Lin PX, Chang YM, Hwu WL, Chien YH, Lin JL, Chen HA, Lee NC, Su PH, Hsieh TC, Klinkhammer H, Wang YC, Huang YT, Krawitz PM, Lin SH, Huang LLH, Chiang PM, Shih MH, Chen PC. Li CY, et al. Among authors: lin jl. EBioMedicine. 2024 Nov 29;110:105476. doi: 10.1016/j.ebiom.2024.105476. Online ahead of print. EBioMedicine. 2024. PMID: 39615461 Free article.
1,165 results