Article

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

2025-03-15

Abstract excerpt

Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function (LOF), gain-of-function (GOF), and dominant-negative (DN) effects. Accurately predicting these mechanisms is a pressing clinical need, as therapeutic strategies must align with the underlying disease mechanism. Moreover, computational predictors tend to perform less well...

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Literature Corpus work: 0dfc2054-a8c7-5158-a341-4188af23ab61
DOI: 10.1101/2025.03.13.642984

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