A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity

The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has not been determined due to limited genetic information from families carrying these alterations. Here we classified six new variants as pathogenic or non-pathogenic by analysis of genetic information from famil...

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Detaylı Bibliyografya
Asıl Yazarlar: Guidugli, Lucia, Pankratz, V. Shane, Singh, Namit, Thompson, James, Erding, Catherine A, Engel, Christoph, Schmutzler, Rita, Domchek, Susan, Nathanson, Katherine, Radice, Paolo, Singer, Christian, Tonin, Patricia N., Lindor, Noralane M., Goldgar, David E., Couch, Fergus J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2012
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537884/
https://ncbi.nlm.nih.gov/pubmed/23108138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-12-2081
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