BiophysicsbioRxivPreprint
Classifying disease-associated variants using measures of protein activity and stability
Michael Maglegaard Jepsen, Douglas M. Fowler, Rasmus Hartmann-Petersen…·Kresten Lindorff-Larsen
The paper classifies PTEN missense variants as pathogenic or benign using experimental and computational methods, finding that ~60% of pathogenic variants destabilize the protein.
DOI 10.1101/688234