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Protein Structure, Molecular Mechanisms and Human Genetic Disease: Beyond the Loss-of-function Paradigm



Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Author(s): Gerasimavicius, L., Livesey, B.J. & Marsh, J.A.
Published in: Nature Communications, 2022, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-31686-6

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