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Genetic Analysis and Multimodal Imaging Confirm M.12148 T > C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction

Kinsley Belle,Alexander Kreymerman,Jill L. Young,Nirmal Vadgama,Marco H. Ji,Sandeep Randhawa,Juan Caicedo,Megan Wong, Stephanie P. Muscat,Casey A. Gifford,Richard T. Lee,Jamal Nasir, Gregory M. Enns,Ioannis Karakikes,Andrew M. Schaefer,Robert W. Taylor,Mark Mercola, Dwight Koeberl,Edward H. Wood

Molecular Genetics and Metabolism（2025）

Cited 0|Views3
Key words
Patient specific,iPSC variant modelling,Heteroplasmy,Rare mitochondrial variant,Single cell arms-qPCR
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