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CORDIS

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

Deliverables

Publications

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

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

Buffering of genetic dominance by allele-specific protein complex assembly

Author(s): Mihaly Badonyi, Joseph A Marsh
Published in: Science Advances, Issue 9, 2023, Page(s) eadf9845, ISSN 2375-2548
Publisher: American Association for the Advancement of Science
DOI: 10.1126/sciadv.adf9845

Correspondence between functional scores from deep mutational scans and predicted effects on protein stability

Author(s): Lukas Gerasimavicius, Benjamin J. Livesey, Joseph A. Marsh
Published in: Protein Science, Issue 32, 2023, Page(s) e4688, ISSN 1469-896X
Publisher: Wiley
DOI: 10.1002/pro.4688

Updated benchmarking of variant effect predictors using deep mutational scanning

Author(s): Benjamin J Livesey, Joseph A Marsh
Published in: Molecular Systems Biology, Issue 19, 2023, Page(s) e11474, ISSN 1744-4292
Publisher: Nature Publishing Group
DOI: 10.15252/msb.202211474

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