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Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

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...

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Detaylı Bibliyografya
Asıl Yazarlar: Claire E McCarthy-Leo, George S Brush, Roger Pique-Regi, Francesca Luca, Michael A Tainsky, Russell L Finley
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science (PLoS) 2024-08-01
Seri Bilgileri:PLoS Genetics
Online Erişim:https://doi.org/10.1371/journal.pgen.1011375
Etiketler: Etiketle
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