Scientific reports
Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.
Àngels Mateu-Regué, Luca Mariani, Frederik Otzen Bagger, Muthiah Bose, Finn Cilius Nielsen
Published: 202610.1038/s41598-025-34563-6
Abstract
With the expanding catalogue of novel disease-genes, there is an increasing need to establish the significance of potential disease-causing variants. Based on the idea that pathogenic variants in structured protein domains disturb folding and associa…
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