Article

An integrated framework for functional dissection of variable expressivity in genetic disorders

2025-07-23

Abstract excerpt

<h4>ABSTRACT</h4> Disease-associated variants can lead to variable phenotypic outcomes, but the biological mechanisms underlying this variability remain poorly understood. We developed a framework to investigate this phenomenon using the 16p12.1 deletion as a paradigm of variable expressivity. Using induced pluripotent stem cell models from affected families and CRISPR-edited lines with the 16p12.1 deletion, we f...

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Literature Corpus work: c892f735-8d43-5dc4-abe6-4642a5fb7b7d
DOI: 10.1101/2025.07.22.25331885

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