Journal Article

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

Farid Ullah; Waqar Rauf; Kamal Khan; Sheraz Khan; Katrina M. Bell; Vanessa Cristina de Oliveira; Muhammad Tariq; Shabnam Bakhshalizadeh; Philippe Touraine; Nicholas Katsanis; Andrew Sinclair; Sijie He; Elena J. Tucker; Shahid M. Baig; Erica E. Davis

Human Genetics · Vol. 140, Issue 12 · pp. 1733-1751 · 2021

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Abstract

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2021-12-01
Publication Year	2021
Volume	140
Issue	12
Pages	1733-1751
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-021-02380-2

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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