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  1. Article

    Open Access

    Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

    Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that ...

    Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu in Nature (2023)