FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Mohammed Almannai, Julia Wang, Hongzheng Dai, Ayman W. El-Hattab, Eissa A. Faqeih, Mohammed A. Saleh, Ali Al Asmari, Ali H. Alwadei, Yaser I. Aljadhai, Amal AlHashem, Brahim Tabarki, Matthew A. Lines, Dorothy K. Grange, Ruba Benini, Abdulaziz S. Alsaman, Adel Mahmoud, Panagiotis Katsonis, Olivier Lichtarge, Lee Jun C. Wong

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Biochemistry, Genetics and Molecular Biology