Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

A fundamental challenge to contemporary genetics is to distinguish rare missense alleles that disrupt protein functions from the majority of alleles neutral on protein activities. High-throughput experimental tools to securely discriminate between disruptive and non-disruptive missense alleles are c...

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Bibliographic Details
Main Authors: Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, Lander, Eric S., Gabriel, Stacey, Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko
Format: Online
Language:English
Published: Public Library of Science 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409815/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409815/

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