Article

Pervasive mislocalization of pathogenic coding variants underlying human disorders

2023-09-05

Abstract excerpt

<h4>SUMMARY</h4> Widespread sequencing has yielded thousands of missense variants predicted or confirmed as disease-causing. This creates a new bottleneck: determining the functional impact of each variant – largely a painstaking, customized process undertaken one or a few genes or variants at a time. Here, we established a high-throughput imaging platform to assay the impact of coding variation on protein locali...

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Literature Corpus work: c0a0778f-cdb7-5390-a843-33b3f85a66a5
DOI: 10.1101/2023.09.05.556368

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