An empirical pipeline for personalized diagnosis of Lafora disease mutations
M. K. Brewer, M. Machio-Castello, R. Viana, J. L. Wayne, A. Kuchtova, Z. R. Simmons, S. Sternbach, S. Li, M. A. Garcia-Gimeno, J. Serratosa, P. Sanz, C. W. Vander Kooi, M. S. Gentry
This paper develops an empirical pipeline to classify EPM2A mutations in Lafora disease by analyzing their functional impact in vitro, linking specific mutations to clinical outcomes.
bioRxiv · Mar 26, 2021Biochemistry