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Fine resolution clustering of<i>TP53</i>variants into functional classes predicts cancer risks and spectra among germline variant carriers

2023-12-28

Abstract excerpt

<h4>ABSTRACT</h4> Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to a broad spectrum of cancers caused by pathogenic TP53 germline variants. We have used a clustering approach to assign missense variants to functional classes with distinct quantitative and qualitative features based on transcriptional activity in yeast assays. Genotype-phenotype correlations were analyzed using the germline TP53 muta...

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Literature Corpus work
8ac3ba8f-067e-5d7d-a31d-e969110ecce8
DOI
10.1101/2023.12.23.23300440
Open publication

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Fine resolution clustering of<i>TP53</i>variants into functional classes predicts cancer risks and spectra among germline variant carriersDOI 10.1101/2023.12.23.23300440
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