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Classifying disease-associated variants using measures of protein activity and stability

Michael Maglegaard Jepsen, Douglas M. Fowler, Rasmus Hartmann‐Petersen, Amelie Stein, Kresten Lindorff‐Larsen

2020Elsevier eBooks33 citationsDOI

Topics & Concepts

PTENMissense mutationTensinComputational biologyBiologyExome sequencingGeneticsMutationGenePI3K/AKT/mTOR pathwayApoptosisGenomics and Rare DiseasesGenomics and Phylogenetic StudiesRNA and protein synthesis mechanisms
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