Article

A calibrated cell-based functional assay to aide classification of <i>MLH1</i> DNA mismatch repair gene variants

2021-12-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Functional assays provide important evidence for classifying the disease significance of germline variants in the DNA mismatch repair genes. We sought to develop a cell-based approach for testing the function of variants of uncertain significance (VUS) in the MLH1 gene. <h4>METHODS</h4> Using CRISPR gene editing, we knocked-in MLH1 VUS into the endogenous MLH1 loci in huma...

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Literature Corpus work: 0850202d-5f86-5e51-8201-0060913d73af
DOI: 10.1101/2021.12.14.472580

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