Article

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

2025-04-01

Abstract excerpt

Intrinsically disordered protein regions (IDPRs) are central to diverse cellular processes but present unique challenges for interpreting genetic variants implicated in human disease. Unlike structured protein domains, IDPRs lack stable three-dimensional conformations and are often involved in regulation through transient interactions and post-translational modifications. These features can affect both the distrib...

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Literature Corpus work: 0feb1c95-0973-539e-9d39-b574f912ecd5
DOI: 10.1101/2025.04.01.646619

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