Article

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

2023-09-15

Abstract excerpt

<h4>ABSTRACT</h4> Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes, carrier polygenic backgrounds, and modulation of carrier effect by genetic background (marginal e...

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Literature Corpus work: 7e76d978-327b-5c7b-bf2b-98b8085f7efd
DOI: 10.1101/2023.09.14.23295564

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