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Abstract Predicting the pathogenic effect of rare genetic variants is significantly hampered by the limited cohort of diagnosed patients and the difficulty in functionally evaluating the effect of existing and novel variants. To address this issue, we leveraged a protein Multiplexed Assay of Variants Effect (MAVE) to functionally assess the effect of ~ 2200 missense variants of the TP63 gene, some of which cause autosomal dominant developmental disorders.
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