Molecular BiologyMolecular Systems BiologyPeer-reviewed
Expanding the Atlas of Functional Missense Variation for Human Genes
Jochen Weile, Song Sun, Atina G. Coté…·Frederick P. Roth
This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.
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