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| De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis PL Weng, AJ Majmundar, K Khan, TY Lim, S Shril, G Jin, J Musgrove, ... The American Journal of Human Genetics 108 (2), 357-367, 2021 | 18 | 2021 |
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