Article

Massively parallel functional testing of <i>MSH2</i> missense variants conferring Lynch Syndrome risk

2020-06-04

Abstract excerpt

The lack of functional evidence for the majority of missense variants limits their clinical interpretability, and poses a key barrier to the broad utility of carrier screening. In Lynch Syndrome (LS), one of the most highly prevalent cancer syndromes, nearly 90% of clinically observed missense variants are deemed “variants of uncertain significance” (VUS). To systematically resolve their functional status, we perf...

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Literature Corpus work: 005d5f4c-66b2-506a-b3a1-7b5915d97df1
DOI: 10.1101/2020.06.03.133017

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