Article

Multimodal phenotyping defines variant-to-function maps for RBM20 in dilated cardiomyopathy

2026-06-11

Abstract excerpt

Multiplex assays of variant effects have linked thousands of genotypes to fitness effects, yet we lack profound understanding of how variants impact molecular phenotypes. Here, we introduce a deep mutational scanning framework that quantifies disease-determining molecular phenotypes in human cells, allowing readouts of protein localization and splicing regulatory function at scale. Applied to the dilated cardiomyo...

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Literature Corpus work: 4b365c21-a7a2-594a-a2e1-904a56c8c2fe
DOI: 10.64898/2026.06.10.730167

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