Article

Functional characterization of all <i>CDKN2A</i> missense variants and comparison to in silico models of pathogenicity

2023-12-28

Abstract excerpt

Interpretation of variants identified during genetic testing is a significant clinical challenge. In this study, we developed a high-throughput CDKN2A functional assay and characterized all possible CDKN2A missense variants. We found that 17.7% of all missense variants were functionally deleterious. We also used our functional classifications to assess the performance of in silico models that predict the effect o...

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Literature Corpus work: 79d7ea97-57fc-50dc-a900-7085b3490885
DOI: 10.1101/2023.12.28.573507

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