Article

Evaluating Variants of Uncertain Significance in Adult Knock-in Zebrafish: A Proof of Concept with a <i>COL1A2</i> Variant

2025-02-12

Abstract excerpt

<h4>ABSTRACT</h4> Genomic variants of uncertain significance (VUS) impede clinical decision-making. In this study, we use a knock-in strategy in zebrafish to evaluate the COL1A2 c.2123G>A VUS, identified in a 59-year-old female with recurrent fractures. Using prime editing, we obtained different zebrafish lines respectively harboring the VUS, a known pathogenic variant, or a known benign variant. Comprehensive s...

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Literature Corpus work: 5a7a3fc7-400d-55dc-bb85-4167a4a954bc
DOI: 10.1101/2025.02.11.637642

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Evaluating Variants of Uncertain Significance in Adult Knock-in Zebrafish: A Proof of Concept with a <i>COL1A2</i> VariantDOI 10.1101/2025.02.11.637642Read

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