Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. Autor Aenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiss, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S Lander, Stacey Gabriel, Daniel J Rader, Gina M Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz

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