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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
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