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Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency

Author:

Natalie B. Tan,Matthias Gautschi,Michael Raum,Daniella H. Hock,Robert Kopajtich,Jia Wang,Xiao Qian,Tanavi Sharma,Timothy E. Green,Jean-Marc Nuoffer,Katrina M. Bell,Katarzyna Pospieszny,Tegan Stait,Chloe Pike,Michelle Cao,Susan M. White et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

7 May 2026

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