A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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11 Citations (Scopus)

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Medicine & Life Sciences