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Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to

Kinsley Belle1, Alexander Kreymerman2, Jill L Young3

  • 1Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.

Molecular Genetics and Metabolism
|February 22, 2025
PubMed
Summary

No abstract available in PubMed .

Keywords:
HeteroplasmyPatient specificRare mitochondrial variantSingle cell arms-qPCRiPSC variant modelling

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