Article

Comprehensive analysis of the functional impact of single nucleotide variants of human <i>CHEK2</i>

2023-12-23

Abstract excerpt

Loss of function mutations in the checkpoint kinase gene CHEK2 are associated with increased risk of breast and other cancers. Most of the 3,188 unique amino acid changes that can result from non-synonymous single nucleotide variants (SNVs) of CHEK2 , however, have not been tested for their impact on the function of the CHEK2 -enocded protein (CHK2). One successful approach to testing the function of variants h...

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Literature Corpus work: b8c962d0-d238-5986-9665-0e7c0ecfe79c
DOI: 10.1101/2023.12.22.573093

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