A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

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TitleA recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
DateDecember 1st, 2021
Issue nameHuman Genetics
Issue numberv140.12 p1733-1751
DOI10.1007/s00439-021-02380-2
AuthorsUllah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM & Davis EE
MTGsMTG7
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