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Antje K Rottner, Yingying Ye, Elena Navarro-Guerrero, et al.
Nat Genet. 2022-12-21;55(1):54-65.
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AJHG. 2017-06-01;100(6):940-953.
Bong-Seok Jo, In-Uk Koh, Jae-Bum Bae, et al.
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H. Efsun Arda, Lingyu Li, Jennifer Tsai, et al.
Cell Metabolism. 2016-05-10;23(5):909-920.