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A Recessive Variant in TFAM Causes Mtdna Depletion Associated with Primary Ovarian Insufficiency, Seizures, Intellectual Disability and Hearing Loss

Ann & Robert H. Lurie Children’s Hospital of Chicago, Pakistan Institute of Engineering and Applied Sciences (PIEAS),Khan Kamal, Bioinformatics, Murdoch Children’s Research Institute, Royal Children’s Hospital,de Oliveira Vanessa Cristina,Royal Children’s Hospital,Touraine Philippe, Rescindo Therapeutics,He Sijie, Aga Khan University, Northwestern University

Human Genetics(2021)

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